ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)

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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 RCV003781840 SCV004574386 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr760Tyrfs*7) in the DSP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 29892087, 31317183). For these reasons, this variant has been classified as Pathogenic.

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