ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) (rs201845396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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 RCV000219803 SCV000577797 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619941 SCV000736151 likely benign Cardiovascular phenotype 2017-12-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV000642333 SCV000764002 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-08-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771964 SCV000904918 likely benign Cardiomyopathy 2018-10-15 criteria provided, single submitter clinical testing

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