ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4678C>T (p.Gln1560Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005216049 SCV005860585 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1560*) 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. For these reasons, this variant has been classified as Pathogenic.
deCODE genetics, Amgen RCV003485901 SCV004022159 likely pathogenic Arrhythmogenic right ventricular dysplasia 8 2023-07-21 no assertion criteria provided research The variant NM_004415.4:c.4678C>T (chr6:7580868) in DSP was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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