ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)

gnomAD frequency: 0.00011  dbSNP: rs141078292
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818338 SCV000958946 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852999 SCV000995753 likely benign Cardiomyopathy 2017-03-22 criteria provided, single submitter clinical testing
GeneDx RCV001557712 SCV001779523 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge Observed in 13/282,796 (0.005%) global alleles in large population cohorts (Lek et al., 2016) In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect Reported in ClinVar but additional evidence is not available (ClinVar Variant ID#661015; Landrum et al., 2016) Identified in conjunction with additional cardiogenetic variants in individuals referred for cardiac genetic testing at GeneDx, but segregation data are limited or absent at this time
Ambry Genetics RCV002427033 SCV002680446 likely benign Cardiovascular phenotype 2023-04-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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