ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys)

gnomAD frequency: 0.00004  dbSNP: rs201845396
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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
GeneDx 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 (formerly Invitae), Labcorp RCV000642333 SCV000764002 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-11-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771964 SCV000904918 likely benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000771964 SCV002043141 benign Cardiomyopathy 2020-06-26 criteria provided, single submitter clinical testing

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