1433M10White++20/40020/8001.301.60NRNRp.W31*p.P1380L
p.W31X in trans with p.P1380L
18 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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iovs.arvojournals.org iovs.arvojournals.org
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We identified 121 patients who carried pathogenic mutations in known RP or Usher syndrome genes (Supplementary Tables S4–S6).
genotypes in table S2
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- Sep 2026
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The proband
Case#: two affected sisters
DiseaseAssertion: Stargardt Disease
FamilyInfo: compound heterozygotes for the mutations. Unaffected family members did not carry either or had one of the two mutations.
CasePresentingHPOs: NR
CaseHPOFreeText: NR
CaseNotHPOs: NR
CaseNotHPOFreeText: NR
Genotyping Method: ABCA4 408 microsatellite
PreviouslyPublished: NR
Variant: NM_000350.3(ABCA4):c.5018+2T>C , NM_000350.3(ABCA4):c.655A>T
ClinVar: 265008, 632118
CAID: CA10588304, CA645372240
SupplementalData: NR
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Current age 26 years
Tags
- inferred_gene_source:RefSeq
- inferred_gene_hgnc:34
- Varient: ABCA4 (RefSeq: NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu))
- DiseaseAssertion: SLC26A2
- ClinGen ABCA4 Annotations
- CaseHPOFreeText:severe macular atrophy (Heidelberg Spectralis, Heidelberg Engineering; Figure 3). Multifocal ERG responses were severely reduced at all rings in both eyes
- CasePresentingHPOs: n/a
- FamilyInfo:Family pedigree showing consanguinity of the proband's parents. The osteochondrodysplasia genotype, derived from a homozygous variant in the SLC26A2 gene and compound heterozygous variants in the ABCA4 gene, is responsible for the retinal phenotype.
- Case#: Eldest sister/Female/Onset at 3yo
- GenotypingMethod: genetic screening by next‐generation sequencing (NGS) was performed on a panel of genes involved in retinal dystrophy and macular degeneration
Annotators
URL
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- Mar 2021
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 4.8
AssayResultAssertion: Normal
StandardErrorMean: 0.23
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A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.2755G>A p.(Val919Ile)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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SUPPLEMENTARY DATA
AssayResult: 106.8
AssayResultAssertion: Not reported
PValue: > 0.9999
Comment: Exact values reported in Table S3.
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To this end, 44 missense variants found in breast cancer patients were identified in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) and/or selected by literature curation based on their frequency of description or amino acid substitution position in the protein (Supplemental Table S1).
HGVS: NM_024675.3:c.344G>T p.(Gly115Val)
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www.nature.com www.nature.com
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While 3 VUS (p.W912G, p.L961P, and p.G1043D) had a dramatic impact on the percentage of cells showing RAD51 foci, 2 VUS (p.G937R and p.L947S) displayed a more minor effect.
AssayResult: 1.24 foci/cell
AssayResultAssertion: Abnormal
Range: 0 - 25
Comment: Exact values reported in "Source Data" file
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Source Data
AssayResult: 27.29
AssayResultAssertion: Not reported
ReplicateCount: 2
StandardErrorMean: 6.53
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 8.41
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardErrorMean: 1.95
Comment: Exact values reported in “Source Data” file.
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Source Data
AssayResult: 6.53
AssayResultAssertion: Abnormal
ReplicateCount: 2
StandardDeviation: 0.29
StandardErrorMean: 0.21
Comment: Exact values reported in “Source Data” file.
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We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.
HGVS: NM_024675.3:c.2882T>C p.(L961P)
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www.cell.com www.cell.com
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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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we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.278T>C p.(Phe93Ser)
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- Feb 2021
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jmg.bmj.com jmg.bmj.com
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Supplemental material
AssayResult: 61
AssayResultAssertion: Normal
Comment: See Table S2 for details
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Supplemental material
AssayResult: 10.8
AssayResultAssertion: Abnormal
Comment: See Table S2 for details
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We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.
HGVS: NM_000546.5:c.690del p.(Thr231Profs*16)
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