Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219803 | SCV000271717 | uncertain significance | not specified | 2015-03-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Arg824Cys var iant in DSG2 has been reported previously in 2 Chinese individuals with clinical features of ARVC (Bao 2013). It has also been identified in 0.2% (17/8618) of E ast Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs201845396). Arginine (Arg) at position 824 is not conse rved in mammals or evolutionarily distant species and 2 mammals (black flying fo x and megabat) have a cysteine (Cys) at this position, raising the possibility t hat this change may be tolerated. Additional computational prediction tools do n ot provide strong support for or against an impact the protein. In summary, whil e the clinical significance of the p.Arg824Cys variant is uncertain, its frequen cy in general population, lack of evolutionary conservation, and presence of the variant amino acid in other mammals suggest that it is more likely to be benign |
Gene |
RCV001705201 | SCV000577797 | likely benign | not provided | 2019-05-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24125834, 27005929) |
Ambry Genetics | RCV000619941 | SCV000736151 | likely benign | Cardiovascular phenotype | 2017-12-07 | 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. |
Labcorp Genetics |
RCV000642333 | SCV000764002 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771964 | SCV000904918 | likely benign | Cardiomyopathy | 2018-10-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000771964 | SCV002043141 | benign | Cardiomyopathy | 2020-06-26 | criteria provided, single submitter | clinical testing |