ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2086del (p.Gln696fs)

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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 RCV002866675 SCV003233388 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln696Argfs*9) 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 variant has not been reported in the literature in individuals affected with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 2027550). For these reasons, this variant has been classified as Pathogenic.

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