ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688459 SCV000816071 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-06-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln734*) in the DSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769022411, ExAC 0.01%). This variant has been observed in an individual affected with unexplained cardiac arrest (PMID: 28600387). Loss-of-function variants in DSC2 are known to be pathogenic (PMID: 18957847, 23863954, 23911551). For these reasons, this variant has been classified as Pathogenic.

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