Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171900 | SCV000050904 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Blueprint Genetics | RCV000208226 | SCV000263852 | uncertain significance | Cardiac arrest | 2015-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621568 | SCV000737809 | likely benign | Cardiovascular phenotype | 2016-11-29 | 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. |
Illumina Laboratory Services, |
RCV001124514 | SCV001283483 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Color Diagnostics, |
RCV001181081 | SCV001346157 | likely benign | Cardiomyopathy | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001124514 | SCV001416619 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-03 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 355 of the DSG2 protein (p.Ala355Thr). This variant is present in population databases (rs201046640, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 191629). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DSG2 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV000171900 | SCV001771150 | uncertain significance | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | Reported in a cohort not selected for arrhythmia, cardiomyopathy or family history of sudden death who underwent exome anaylsis (Ng et al., 2013); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23861362) |
All of Us Research Program, |
RCV004806159 | SCV005428695 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-09-27 | criteria provided, single submitter | clinical testing |