Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000183868 | SCV000236350 | uncertain significance | not provided | 2024-07-18 | criteria provided, single submitter | clinical testing | Identified in patients with cardiomyopathy, including HCM, DCM, and ARVC, in published literature; several patients harbored additional cardiogenetic variants (PMID: 25351510, 37652022, 30847666); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25351510, 37652022, 30847666) |
Labcorp Genetics |
RCV000477856 | SCV000768948 | likely benign | Dilated cardiomyopathy 1DD | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415685 | SCV002720318 | likely benign | Cardiovascular phenotype | 2021-12-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Victorian Clinical Genetics Services, |
RCV000477856 | SCV002768225 | uncertain significance | Dilated cardiomyopathy 1DD | 2022-02-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3C. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with dilated cardiomyopathy, 1DD (MIM#613172). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to serine. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v3) <0.001 for a dominant condition (22 heterozygotes, 0 homozygotes). (SP) 0504 - Same amino acid change has been observed in placental mammals. (SB) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been classified as a VUS in the literature and by multiple clinical diagnostic labs (PMID: 30847666; ClinVar). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
Fulgent Genetics, |
RCV000477856 | SCV002814507 | uncertain significance | Dilated cardiomyopathy 1DD | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000183868 | SCV004225328 | uncertain significance | not provided | 2022-08-18 | criteria provided, single submitter | clinical testing | BP4 |
Blueprint Genetics | RCV000157431 | SCV000207175 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-03-03 | no assertion criteria provided | clinical testing | |
Division of Human Genetics, |
RCV000477856 | SCV000536775 | uncertain significance | Dilated cardiomyopathy 1DD | 2015-12-18 | no assertion criteria provided | research |