ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)

dbSNP: rs1555637555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000627125 SCV000747928 likely pathogenic not provided 2017-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002529804 SCV003007557 pathogenic Arrhythmogenic right ventricular dysplasia 11 2022-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe708Hisfs*14) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with arrhythmogenic cardiomyopathy (PMID: 33258288). ClinVar contains an entry for this variant (Variation ID: 523695). For these reasons, this variant has been classified as Pathogenic.

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