ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7820del (p.Ser2607fs)

dbSNP: rs2113703361
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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 RCV001389705 SCV001591156 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-03-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DSP gene (p.Ser2607Thrfs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 265 amino acids of the DSP protein. 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. This variant disrupts the C-terminus of the DSP protein. Other variant(s) that disrupt this region (p.Glu2728Glyfs*11) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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