- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Source Data
AssayResult: 91.6
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 8.2
StandardErrorMean: 5.8
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 82.83
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 4.82
StandardErrorMean: 3.41
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 87.35
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 11.94
StandardErrorMean: 8.44
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 83.25
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.27
StandardErrorMean: 3.73
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 7.03
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.68
StandardErrorMean: 1.9
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 77.45
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 6.2
StandardErrorMean: 4.38
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 9.92
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.93
StandardErrorMean: 1.37
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 95.02
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.08
StandardErrorMean: 0.06
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 10.4
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 3.22
StandardErrorMean: 2.28
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 7.75
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.59
StandardErrorMean: 1.83
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 75.45
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 4.03
StandardErrorMean: 2.85
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 98.55
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 5.74
StandardErrorMean: 4.06
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 62.31
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 11.49
StandardErrorMean: 8.13
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 66.19
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 21.26
StandardErrorMean: 15.03
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 105.41
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 9.45
StandardErrorMean: 6.68
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 7.82
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 2.31
StandardErrorMean: 1.64
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 92.32
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.26
StandardErrorMean: 1.6
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 44.9
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 9.75
StandardErrorMean: 6.89
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 97.61
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 0.97
StandardErrorMean: 0.68
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 11.28
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 1.24
StandardErrorMean: 0.87
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 86.67
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardDeviation: 2.24
StandardErrorMean: 1.58
Comment: Exact values reported in “Source Data” file.
Tags
- ClinVarID:126590
- ClinVarID:134994
- ClinVarID:229718
- ClinVarID:126594
- Variant:4
- CAID:CA395139401
- CAID:CA151212
- Variant:1
- ClinVarID:142468
- ClinVarID:126613
- ValidationControl:Benign
- ClinVarID:182790
- CAID:CA151233
- CAID:CA161327
- Variant:8
- CAID:CA395125757
- ClinVarID:126607
- CAID:CA16621924
- ClinVarID:126595
- Variant:17
- CAID:CA250432
- ClinVarID:126609
- Variant:15
- Variant:12
- Variant:20
- CAID:CA251717
- Variant:7
- Variant:19
- CAID:CA161342
- CAID:CA7963653
- CAID:CA288398
- ClinVarID:1243
- CAID:CA10579985
- Variant:13
- Variant:16
- ClinVarID:126630
- CAID:CA279502031
- ValidationControl:Pathogenic
- ClinVarID:657328
- Variant:18
- Variant:11
- ClinVarID:126669
- Variant:9
- CAID:CA269492
- ClinVarID:546043
- ClinVarID:126623
- CAID:CA151222
- CGType:FunctionalAssayResult
- Variant:2
- ClinVarID:126582
- Variant:14
- CAID:CA294407
- CG:BulkAnnotation
- CAID:CA151229
- Variant:3
- Variant:22
- CAID:CA151230
- ClinVarID:530038
- Variant:5
- FuncAssay:1
- CAID:CA185966
- CAID:CA163908
- Variant:10
- Variant:6
- ClinVarID:126600
- CAID:CA288386
Annotators
URL
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www.cell.com www.cell.com
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Automated Patch ClampingCells were patch clamped with the SyncroPatch 384PE automated patch clamping device (Nanion). To prepare cells for patch clamping, cells were washed in PBS, treated with Accutase (Millipore-Sigma) for 3 min at 37°C, then recovered in CHO-S-serum free media (GIBCO). Cells were pelleted and resuspended in divalent-free reference solution (DVF) at ∼200,000–400,000 cells/mL. DVF contained (mM) NaCl 140, KCl 4, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with NaOH. Cells were then added to a medium resistance (4–6 MΩ) 384-well recording chamber with 1 patch aperture per well (NPC-384, Nanion), which contained DVF and internal solution: CsCl 10, NaCl 10, CsF 110, EGTA 10, HEPES 10 (pH 7.2) adjusted with CsOH. Next, to enhance seal resistance, 50% of the DVF was exchanged with a calcium-containing seal enhancing solution: NaCl 80, NMDG 60, KCl 4, MgCl2 1, CaCl2 10, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with HCl. The cells were washed three times in external recording solution: NaCl 80, NMDG 60, KCl 4, MgCl2 1, CaCl2 2, alpha-D(+)-glucose 5, HEPES 10 (pH 7.4) adjusted with HCl. Currents elicited in response to activation, inactivation, and recovery from inactivation protocols were then recorded (Figure S2). A late current measurement was captured every 5 s. After 1 min, 50% of the external solution was exchanged with external solution containing 200 μM tetracaine hydrochloride (Sigma; effective concentration 100 μM tetracaine). After tetracaine addition, late current measurements were obtained every 5 s for 1 additional minute. At least 10 cells expressing wild-type SCN5A were included for comparison in each SyncroPatch experiment (Figure 1), and at least 2 independent transfections and at least 10 replicate cells were studied per mutant. Recordings were performed at room temperature.We also conducted experiments to assess the effects of incubation at low temperature or mexiletine (a sodium channel blocker), interventions reported to increase cell surface expression of mistrafficked channels.27Clatot J. Ziyadeh-Isleem A. Maugenre S. Denjoy I. Liu H. Dilanian G. Hatem S.N. Deschênes I. Coulombe A. Guicheney P. Neyroud N. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.Cardiovasc. Res. 2012; 96: 53-63Crossref PubMed Scopus (62) Google Scholar, 28Makiyama T. Akao M. Tsuji K. Doi T. Ohno S. Takenaka K. Kobori A. Ninomiya T. Yoshida H. Takano M. et al.High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.J. Am. Coll. Cardiol. 2005; 46: 2100-2106Crossref PubMed Scopus (99) Google Scholar, 29Pfahnl A.E. Viswanathan P.C. Weiss R. Shang L.L. Sanyal S. Shusterman V. Kornblit C. London B. Dudley Jr., S.C. A sodium channel pore mutation causing Brugada syndrome.Heart Rhythm. 2007; 4: 46-53Abstract Full Text Full Text PDF PubMed Scopus (49) Google Scholar, 30Valdivia C.R. Ackerman M.J. Tester D.J. Wada T. McCormack J. Ye B. Makielski J.C. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine.Cardiovasc. Res. 2002; 55: 279-289Crossref PubMed Scopus (77) Google Scholar, 31Valdivia C.R. Tester D.J. Rok B.A. Porter C.B. Munger T.M. Jahangir A. Makielski J.C. Ackerman M.J. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.Cardiovasc. Res. 2004; 62: 53-62Crossref PubMed Scopus (106) Google Scholar For these experiments, cells stably expressing loss-of-function variants were generated as described above. The cells were incubated for 24 h at 30°C, or at 37°C with or without 500 μM mexiletine hydrochloride (Sigma), washed with HEK media, and were patch clamped as described above.
AssayGeneralClass: BAO:0000062 patch clamp
AssayMaterialUsed: CLO:0037237 HEK293-derived cell
AssayDescription: HEK293T-derived cells stably expressing wild type or variant SCN5A were patch clamped and currents elicited in response to activation, inactivation, and recovery from inactivation were recorded, as well as late current measurements.
AssayReadOutDescription: Peak current density relative to wild type, which was set to 100%
AssayRange: %
AssayNormalRange: Peak current density 75-125% of wild type
AssayAbnormalRange: Peak current density 10-50% of wildtype
AssayIndeterminateRange: Peak current density 50-75% of wildtype
ValidationControlPathogenic: 0
ValidationControlBenign: 10
Replication: At least 2 independent transfections and at least 10 replicate cells per variant (see ReplicateCount in FunctionalAssayResult annotations for each variant).
StatisticalAnalysisDescription: Two-tailed t tests or two-tailed Mann-Whitney U tests were used to compare variant parameters between groups of variants, while differences in dispersion between groups were tested with Levene’s test.
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 100
AssayResultAssertion: Normal
ReplicateCount: 471
StandardErrorMean: 3.7
ControlType: Normal; wild type
Comment: This variant (wildtype) had normal function. All other variant parameters were normalized to the values of wildtype. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 59.3
AssayResultAssertion: Indeterminate
ReplicateCount: 30
StandardErrorMean: 8.3
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 28.4
AssayResultAssertion: Abnormal
ReplicateCount: 13
StandardErrorMean: 8.6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 45.3
AssayResultAssertion: Abnormal
ReplicateCount: 31
StandardErrorMean: 5.1
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1).
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 37.2
AssayResultAssertion: Abnormal
ReplicateCount: 26
StandardErrorMean: 3.8
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 23.1
AssayResultAssertion: Abnormal
ReplicateCount: 33
StandardErrorMean: 3.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 89.5
AssayResultAssertion: Normal
ReplicateCount: 29
StandardErrorMean: 14.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.9
AssayResultAssertion: Abnormal
ReplicateCount: 18
StandardErrorMean: 0.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 5.4
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 1.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 14.8
AssayResultAssertion: Abnormal
ReplicateCount: 27
StandardErrorMean: 2.5
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 78.9
AssayResultAssertion: Normal
ReplicateCount: 38
StandardErrorMean: 7.2
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 43.3
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 12.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 59.7
AssayResultAssertion: Indeterminate
ReplicateCount: 41
StandardErrorMean: 6.3
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 10.2
AssayResultAssertion: Abnormal
ReplicateCount: 12
StandardErrorMean: 3.4
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.3
AssayResultAssertion: Abnormal
ReplicateCount: 24
StandardErrorMean: 0.3
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 11
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 1.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 32.6
AssayResultAssertion: Abnormal
ReplicateCount: 10
StandardErrorMean: 6.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 36
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 13.9
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 2.8
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3.5
AssayResultAssertion: Abnormal
ReplicateCount: 29
StandardErrorMean: 0.8
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.2
AssayResultAssertion: Abnormal
ReplicateCount: 25
StandardErrorMean: 0.2
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 102.6
AssayResultAssertion: Normal
ReplicateCount: 31
StandardErrorMean: 16.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.6
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 0.7
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 12
AssayResultAssertion: Abnormal
ReplicateCount: 10
StandardErrorMean: 2.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 102.4
AssayResultAssertion: Normal
ReplicateCount: 39
StandardErrorMean: 15.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 47
AssayResultAssertion: Indeterminate
ReplicateCount: 10
StandardErrorMean: 15.5
Comment: This variant had a mix of multiple abnormalities: a partial loss of function of peak current (10-50% of wildtype) and a gain of function >10mV shift in activation voltage. Therefore it was considered to have inconclusive in vitro properties (neither normal nor abnormal in vitro function). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 114.7
AssayResultAssertion: Normal
ReplicateCount: 42
StandardErrorMean: 15.2
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 36
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 5.9
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 121.4
AssayResultAssertion: Normal
ReplicateCount: 34
StandardErrorMean: 13.2
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.1
AssayResultAssertion: Abnormal
ReplicateCount: 27
StandardErrorMean: 0.8
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 29.8
AssayResultAssertion: Abnormal
ReplicateCount: 13
StandardErrorMean: 5.7
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3.2
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 0.5
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.8
AssayResultAssertion: Abnormal
ReplicateCount: 23
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 43
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 16
AssayResultAssertion: Abnormal
ReplicateCount: 26
StandardErrorMean: 2.3
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 2.9
AssayResultAssertion: Abnormal
ReplicateCount: 20
StandardErrorMean: 2.1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 117.2
AssayResultAssertion: Abnormal
ReplicateCount: 36
StandardErrorMean: 11.7
Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 21
AssayResultAssertion: Abnormal
ReplicateCount: 12
StandardErrorMean: 5.1
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 38.9
AssayResultAssertion: Abnormal
ReplicateCount: 27
StandardErrorMean: 7.2
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 120.5
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 10.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 105.3
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 10.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 77.5
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 8.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 41.7
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 10.8
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 63.8
AssayResultAssertion: Indeterminate
ReplicateCount: 25
StandardErrorMean: 10.1
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.9
AssayResultAssertion: Abnormal
ReplicateCount: 12
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 68.1
AssayResultAssertion: Indeterminate
ReplicateCount: 18
StandardErrorMean: 8.7
Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 32
AssayResultAssertion: Abnormal
ReplicateCount: 31
StandardErrorMean: 5
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.2
AssayResultAssertion: Abnormal
ReplicateCount: 11
StandardErrorMean: 0.7
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 3.4
AssayResultAssertion: Abnormal
ReplicateCount: 22
StandardErrorMean: 0.8
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 39
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.6
AssayResultAssertion: Abnormal
ReplicateCount: 25
StandardErrorMean: 0.4
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 28.5
AssayResultAssertion: Abnormal
ReplicateCount: 21
StandardErrorMean: 7.6
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 113.2
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 13.9
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0
AssayResultAssertion: Abnormal
ReplicateCount: 24
StandardErrorMean: 0
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.3
AssayResultAssertion: Abnormal
ReplicateCount: 67
StandardErrorMean: 0.3
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.8
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 34.2
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 6.7
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 109.6
AssayResultAssertion: Normal
ReplicateCount: 11
StandardErrorMean: 19.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 117.8
AssayResultAssertion: Normal
ReplicateCount: 15
StandardErrorMean: 14.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 39
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 6.4
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 119.6
AssayResultAssertion: Normal
ReplicateCount: 22
StandardErrorMean: 19.5
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.2
AssayResultAssertion: Abnormal
ReplicateCount: 15
StandardErrorMean: 0.2
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 32.8
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 5
Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 89.4
AssayResultAssertion: Normal
ReplicateCount: 26
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 85.1
AssayResultAssertion: Normal
ReplicateCount: 35
StandardErrorMean: 10.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 103.2
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 120.5
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 13.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 94.8
AssayResultAssertion: Normal
ReplicateCount: 33
StandardErrorMean: 12.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 109.1
AssayResultAssertion: Normal
ReplicateCount: 26
StandardErrorMean: 14.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 101
AssayResultAssertion: Normal
ReplicateCount: 41
StandardErrorMean: 8.9
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 104.3
AssayResultAssertion: Normal
ReplicateCount: 30
StandardErrorMean: 16.3
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 105.8
AssayResultAssertion: Normal
ReplicateCount: 36
StandardErrorMean: 12.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 103.2
AssayResultAssertion: Normal
ReplicateCount: 37
StandardErrorMean: 21.8
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 51.9
AssayResultAssertion: Indeterminate
ReplicateCount: 12
StandardErrorMean: 18.8
Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It had unmeasured late current, but has been previously reported to have high late current (GOF feature). Therefore it was considered to meet neither the abnormal or normal functional parameter. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 64.8
AssayResultAssertion: Abnormal
ReplicateCount: 31
StandardErrorMean: 11.1
Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It also had a very large increase in recovery from inactivation (>10-fold slower). Therefore it was considered to have a partial loss of function (in vitro function consistent with Brugada Syndrome). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 2.2
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 114.3
AssayResultAssertion: Abnormal
ReplicateCount: 16
StandardErrorMean: 22.4
Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 23.2
AssayResultAssertion: Abnormal
ReplicateCount: 14
StandardErrorMean: 7.1
Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 113
AssayResultAssertion: Normal
ReplicateCount: 17
StandardErrorMean: 28.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.1
AssayResultAssertion: Abnormal
ReplicateCount: 19
StandardErrorMean: 0.1
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 86.7
AssayResultAssertion: Normal
ReplicateCount: 28
StandardErrorMean: 8.6
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
-
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 0.7
AssayResultAssertion: Abnormal
ReplicateCount: 17
StandardErrorMean: 0.6
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
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Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 115.6
AssayResultAssertion: Normal
ReplicateCount: 19
StandardErrorMean: 24.7
Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)
Tags
- Variant:83
- ClinVarID:67918
- CAID:CA019856
- Variant:4
- CAID:CA017969
- ClinVarID:67640
- Variant:82
- ClinVarID:67824
- CAID:CA019140
- ValidationControl:Benign
- CAID:CA016490
- Variant:57
- CAID:CA019516
- Variant:80
- ClinVarID:67807
- Variant:37
- MONDO:0011001
- Variant:19
- ClinVarID:68045
- ClinVarID:67757
- Variant:58
- Variant:16
- CAID:CA019148
- CAID:CA016274
- CAID:CA014336
- Variant:30
- ClinVarID:67864
- ClinVarID:67820
- Variant:47
- Variant:79
- Variant:11
- ClinVarID:67756
- Variant:51
- ClinVarID:201546
- ClinVarID:67971
- Variant:23
- CAID:CA018042
- CAID:CA017494
- CAID:CA018735
- ClinVarID:67940
- CAID:CA017955
- Variant:69
- ClinVarID:67884
- CAID:CA018516
- Variant:55
- CAID:CA017557
- CAID:CA059817
- ClinVarID:67727
- Variant:63
- ClinVarID:67723
- CAID:CA017341
- ClinVarID:67874
- CAID:CA017837
- CAID:CA017871
- ClinVarID:48295
- ClinVarID:9396
- Variant:61
- FuncAssay:1
- CAID:CA014324
- Variant:48
- Variant:27
- CAID:CA017679
- CAID:CA016059
- CAID:CA352145324
- CAID:CA064645
- Variant:38
- CAID:CA014305
- CAID:CA017513
- CAID:CA016523
- ClinVarID:242192
- ClinVarID:67751
- ClinVarID:67810
- CAID:CA018812
- CAID:CA016482
- ClinVarID:67758
- Variant:12
- Variant:35
- CAID:CA352143353
- CAID:CA018079
- ClinVarID:67747
- Variant:44
- BAO:0000062
- Variant:13
- CAID:CA018747
- Variant:33
- ClinVarID:67752
- Variant:18
- ClinVarID:9399
- Variant:9
- Variant:62
- Variant:34
- CAID:CA017399
- Variant:29
- ClinVarID:68047
- CGType:FunctionalAssayResult
- Variant:50
- CAID:CA018503
- CAID:CA018163
- ClinVarID:67634
- Variant:68
- ClinVarID:67633
- Variant:41
- ClinVarID:463345
- ClinVarID:67829
- ClinVarID:68055
- ClinVarID:67951
- Variant:59
- ClinVarID:67866
- Variant:5
- ClinVarID:67736
- CAID:CA058963
- ClinVarID:201506
- Variant:65
- Variant:60
- CAID:CA019844
- ClinVarID:67787
- Variant:45
- CAID:CA014455
- CAID:CA019926
- Variant:26
- Variant:28
- Variant:72
- CAID:CA057036
- CAID:CA016221
- ClinVarID:9370
- ClinVarID:67873
- CAID:CA016428
- ClinVarID:67732
- CAID:CA352142022
- ClinVarID:67960
- ClinVarID:67720
- CAID:CA019690
- ClinVarID:67737
- Variant:77
- Variant:17
- ClinVarID:628262
- CAID:CA016206
- CAID:CA017808
- Variant:7
- ClinVarID:229230
- CGType:FunctionalAssay
- CAID:CA352146767
- Variant:31
- ClinVarID:67631
- ValidationControl:WildType
- Variant:71
- CAID:CA018943
- CAID:CA018048
- Variant:56
- Variant:70
- CAID:CA352139743
- CAID:CA018848
- Variant:66
- Variant:54
- ClinVarID:67721
- CAID:CA015938
- Variant:39
- CAID:CA016475
- Variant:21
- CAID:CA352149766
- Variant:2
- Variant:75
- Variant:64
- ClinVarID:67861
- CAID:CA018087
- ClinVarID:201523
- Variant:14
- ClinVarID:67852
- Variant:74
- Variant:22
- CAID:CA016420
- CAID:CA060381
- Variant:36
- AssayRangeType:Quantitative
- Variant:52
- Variant:32
- CAID:CA015925
- ClinVarID:67920
- CLO:0037237
- CAID:CA017946
- Variant:76
- Variant:46
- Variant:73
- CAID:CA017888
- CAID:CA017547
- ClinVarID:67867
- ClinVarID:67734
- Variant:42
- CAID:CA017472
- Variant:1
- UO:0000187
- CAID:CA015974
- ClinVarID:67719
- ClinVarID:68031
- Variant:8
- CAID:CA352144555
- CAID:CA018904
- CAID:CA018863
- ClinVarID:67957
- CAID:CA352149916
- CAID:CA016182
- Variant:15
- AssayControl:Normal
- Variant:49
- Variant:20
- CAID:CA017913
- CAID:CA016995
- Variant:78
- ClinVarID:9377
- ClinVarID:67939
- CAID:CA019709
- ClinVarID:67876
- CAID:CA352143498
- ClinVarID:67869
- CAID:CA352141945
- CAID:CA017796
- CAID:CA064275
- ClinVarID:67952
- CAID:CA016384
- ClinVarID:67635
- Variant:40
- Variant:53
- CAID:CA016228
- ClinVarID:67986
- CAID:CA016002
- Variant:25
- CAID:CA014429
- CAID:CA016076
- CAID:CA019833
- ClinVarID:68049
- Variant:24
- CG:BulkAnnotation
- ClinVarID:67830
- Variant:67
- Variant:43
- Variant:3
- CAID:CA019045
- ClinVarID:48294
- CAID:CA014257
- ClinVarID:67742
- ClinVarID:67854
- ClinVarID:67877
- Variant:81
- ClinVarID:518750
- ClinVarID:67857
- ClinVarID:67642
- Variant:6
- Variant:10
- CAID:CA064027
Annotators
URL
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jmg.bmj.com jmg.bmj.com
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This new quantitative assay, based on both RT-QMPSF and RT-MLPA, was first validated on 31 lymphoblastoid cell lines derived from patients with LFS harbouring different germline heterozygous TP53 variants
AssayGeneralClass: BAO:0010044 targeted transcriptional assay
AssayMaterialUsed: BTO:0000773 lymphoblastoid cell line derived from control individuals or individuals with germline TP53 variants
AssayDescription: Comparative transcriptomic analysis using RNA-Seq to compare EBV cell lines of wild type and pathogenic TP53 in the context of genotoxic stress induced by doxorubicin treatment. 10 biomarkers corresponding to p53 targets were measured to determine a functionality score.
AdditionalDocument: PMID: 23172776
AssayReadOutDescription: In the treated condition, the peak height of each of the 10 p53 target genes was measured and divided by the sum of the heights of the three control genes. This value was then divided by the same ratio calculated in the untreated condition. In the assay, the mean of the 10 values defines the p53 functionality score. The final p53 functionality score is the mean of the scores obtained in RT-MLPA and RT-QMPSF assays.
AssayRange: An arbitrary functionality score was calculated from the induction score of the 10 p53 targets.
AssayNormalRange: N/A
AssayAbnormalRange: N/A
AssayIndeterminateRange: N/A
AssayNormalControl: wild type TP53
AssayAbnormalControl: LFS patient cells
ValidationControlPathogenic: 8 Individuals with dominant-negative TP53 missense variants, 10 Individuals with null TP53 variants, and 13 Individuals with other TP53 missense variants
ValidationControlBenign: 3 patients with wild type TP53
Replication: experiments were performed in triplicates.
StatisticalAnalysisDescription: Differentially expressed genes between doxorubicin-treated and untreated cells were arbitrarily defined using, as filters, a P<0.01 and fold-change cutoffs >2 or <2, for up and down regulation, respectively. The resultant signal information was analyzed using one-way analysis of variance (ANOVA, P= 0.001), assuming normality but not equal variances with a Benjamani–Hochberg correction for multiple comparisons using three groups: controls, null, and missense mutations.
SignificanceThreshold: P=0.001
Comment: statistical analysis and P value from previous publication.
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- Feb 2021
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jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 100
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 20.5
AssayResultAssertion: Normal
Comment: See Table S3 for details
-
Supplemental material
AssayResult: 6.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6.7
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 10.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4.9
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 8.6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.4
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 7.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 2.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.1
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.6
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 3.5
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
-
Supplemental material
AssayResult: 5.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
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Supplemental material
AssayResult: 11.5
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53 from control 3
Comment: See Table S2 for details
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Supplemental material
AssayResult: 10.8
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53 from control 2
Comment: See Table S2 for details
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Supplemental material
AssayResult: 13.6
AssayResultAssertion: Normal
ControlType: Normal, wild type TP53 from control 1
Comment: See Table S2 for details
Tags
- Variant:28
- CAID:CA497716198
- CAID:CA497925664
- ClinVarID:41723
- CAID:CA000493
- ClinVarID:420137
- CAID:CA000302
- CAID:CA397836336
- Variant:37
- ClinVarID:142702
- ClinVarID:12374
- Variant:19
- ClinVarID:100815
- ClinVarID:127825
- Variant:31
- CAID:CA000308
- ValidationControl:WildType
- ClinVarID:12379
- ClinVarID:182965
- Variant:30
- Variant:47
- Variant:11
- Variant:51
- CAID:CA16603074
- ClinVarID:182957
- Variant:39
- Variant:21
- CAID:CA16603033
- ClinVarID:376649
- ClinVarID:634779
- Variant:2
- ClinVarID:458555
- ClinVarID:127815
- Variant:14
- CAID:CA000073
- Variant:22
- CAID:CA16620623
- CAID:CA000374
- FuncAssay:1
- FuncAssay:4
- Variant:27
- Variant:23
- Variant:32
- Variant:46
- Variant:38
- ClinVarID:12347
- CAID:CA1139768486
- ClinVarID:12366
- ClinVarID:376659
- CAID:CA16603066
- ClinVarID:376612
- ClinVarID:12364
- Variant:1
- CAID:CA000382
- ClinVarID:376613
- CAID:CA16603034
- ClinVarID:12356
- CAID:CA397844631
- ClinVarID:428860
- CAID:CA397839547
- CAID:CA645588993
- ClinVarID:135359
- CAID:CA000251
- Variant:49
- CAID:CA000434
- AssayControl:Normal
- FuncAssay:3
- Variant:44
- Variant:13
- CAID:CA000468
- ValidationControl:Pathogenic
- Variant:33
- Variant:40
- CAID:CA645369686
- Variant:9
- Variant:34
- CAID:CA397837761
- Variant:29
- CAID:CA000387
- CAID:CA000106
- CGType:FunctionalAssayResult
- Variant:50
- Variant:24
- Variant:3
- Variant:43
- CAID:CA645588668
- Variant:5
- CAID:CA000454
- CAID:CA000013
- CAID:CA000256
- CAID:CA1139768487
Annotators
URL
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