ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.330_334del (p.Phe111fs)

dbSNP: rs1581792793
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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 RCV000815461 SCV000955915 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2018-12-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe111Profs*4) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related conditions. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139).

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