ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)

dbSNP: rs1555639134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547700 SCV000645024 pathogenic Arrhythmogenic right ventricular dysplasia 11 2017-11-07 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, loss-of-function variants in DSC2 are known to be pathogenic (PMID: 23911551). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 332 (p.Tyr332*) of the DSC2 gene. It is expected to result in an absent or disrupted protein product.

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