ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) (rs142410803)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181166 SCV000233443 benign not specified 2016-08-29 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000181166 SCV000270162 likely benign not specified 2015-04-23 criteria provided, single submitter clinical testing p.Arg833Cys in exon 15 of DSC2: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (43/8636) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs142410803). Arginine (Arg) at position 833 is not conserved in mammals or evolutionarily distant species and 1 mammal (cape elephant shrew) carries a c ysteine (Cys) at this position, further supporting that this change may be toler ated.
Invitae RCV000461186 SCV000561712 benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770529 SCV000901976 uncertain significance Cardiomyopathy 2015-10-23 criteria provided, single submitter clinical testing
Color RCV000770529 SCV000913482 likely benign Cardiomyopathy 2018-04-19 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852735 SCV000995450 likely benign Hypertrophic cardiomyopathy 2018-05-08 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157175 SCV000206899 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-03-17 no assertion criteria provided clinical testing

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