R628P0.10711913458Severe[38]Severe
This variant was mentioned as being previously published (PMID: 12559846). Structural changes for this variant were analyzed by calculating RMSD and predicted this variant to result in a severe phenotype. However, this type of prediction is not used by the LD VCEP.
R628P0.10711913458Severe[38]Severe
This variant was mentioned as being previously published (PMID: 12559846). Structural changes for this variant were analyzed by calculating RMSD and predicted this variant to result in a severe phenotype. However, this type of prediction is not used by the LD VCEP.
Wiseman et al. [21].
Patients 2, 4, and 5 are all homozygous for this variant. Previously published in PMID: 22718273
Wiseman et al. [21].
Patients 2, 4, and 5 are all homozygous for this variant. Previously published in PMID: 22718273
R628Psevere
This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.
R628Psevere
This paper uses in silico predictors to evaluate variants. Prediction is severe for this variant.
p.Arg628Ter
This variant is mentioned in reference to previously published papers that report IEMs
p.Arg628Ter
This variant is mentioned in reference to previously published papers that report IEMs
R628X/R628X6 (1.6%)
Case#: Severe MPS1 patients, 6 individuals with this genotype
DiseaseAssertion: Severe MPS I
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: n/a
GenotypingMethod: n/a
PreviouslyPublished: possible
Variant: R628X/R628X
ClinVar: 550421
CAID: CA2802462
SupplementalData: Table S1 also lists this variant one time in compound heterozygosity with Q70X
R628X/R628X6 (1.6%)
Case#: Severe MPS1 patients, 6 individuals with this genotype
DiseaseAssertion: Severe MPS I
FamilyInfo: n/a
CasePresentingHPOs:
CaseHPOFreeText:
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: n/a
GenotypingMethod: n/a
PreviouslyPublished: possible
Variant: R628X/R628X
ClinVar: 550421
CAID: CA2802462
SupplementalData: Table S1 also lists this variant one time in compound heterozygosity with Q70X
2.1.14 year/MDistended abdomen, developmental delayNo − PathogenicIDUAc.1882C > Tp. Arg628TerHomMPS I
Case#: Patient 2.1.1, male, 4yo, Indian
DiseaseAssertion: MPS1
FamilyInfo: No family history reported, but said not to be consanguineous
CasePresentingHPOs:
CaseHPOFreeText: Distended abdomen, developmental delay
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: NGS, Sanger
PreviouslyPublished:
Variant: c.1882C > T p. Arg628Ter homozygous
ClinVar: 550421
CAID: CA2802462
SupplementalData: n/a
2.1.14 year/MDistended abdomen, developmental delayNo − PathogenicIDUAc.1882C > Tp. Arg628TerHomMPS I
Case#: Patient 2.1.1, male, 4yo, Indian
DiseaseAssertion: MPS1
FamilyInfo: No family history reported, but said not to be consanguineous
CasePresentingHPOs:
CaseHPOFreeText: Distended abdomen, developmental delay
CaseNotHPOs:
CaseNotHPOFreeText:
GenotypingMethod: NGS, Sanger
PreviouslyPublished:
Variant: c.1882C > T p. Arg628Ter homozygous
ClinVar: 550421
CAID: CA2802462
SupplementalData: n/a
In this study we report the first development of a denaturating high performance liquid chromatography (dHPLC) protocol for the rapid and accurate detection of recently described mutations in the IDUA gene. Optimal PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Results: A total of 12 different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron), in 10 MPS I patients were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection.
This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points
In this study we report the first development of a denaturating high performance liquid chromatography (dHPLC) protocol for the rapid and accurate detection of recently described mutations in the IDUA gene. Optimal PCR running and dHPLC partial denaturing conditions for mutation detection were established for each PCR amplicon corresponding to 14 IDUA exons and their adjacent intronic/flanking sequences. Results: A total of 12 different mutations, 5 nonsense, 4 missense, 1 deletion, and 2 splice site (intron), in 10 MPS I patients were screened. All mutations revealed a distinct dHPLC pattern thus enabling their accurate detection.
This proband was "described and recently published by Vazna et al." (PMID: 19396826). Patient is compound heterozygous for c.1882C>T (p.Arg628Ter) and c.208C>T (p.Gln70Ter) (P based on classification by the ClinGen Lysosomal Diseases VCEP); phase confirmed in trans. PM3=0 points