ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)

dbSNP: rs397517406
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Total submissions: 4
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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 RCV000039442 SCV000063126 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-06-19 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000181144 SCV000233421 likely pathogenic not provided 2022-10-04 criteria provided, single submitter clinical testing Identified via whole exome sequencing in one individual without a known diagnosis of ARVC in the published literature, but additional clinical information was not provided (Carruth et al., 2019); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31638835, 31402444)
Invitae RCV001781361 SCV002221827 pathogenic Arrhythmogenic right ventricular dysplasia 11 2022-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 46199). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr282*) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551).
Fulgent Genetics, Fulgent Genetics RCV001781361 SCV002814427 likely pathogenic Arrhythmogenic right ventricular dysplasia 11 2021-11-04 criteria provided, single submitter clinical testing

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