ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1053_1059del (p.His351fs)

dbSNP: rs1373100329
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001903737 SCV002173598 pathogenic Arrhythmogenic right ventricular dysplasia 11 2022-04-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.His351Glnfs*9) 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).

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