ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer)

dbSNP: rs1759396933
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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 RCV001381419 SCV001579802 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1462*) 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: 1069527). For these reasons, this variant has been classified as Pathogenic.
All of Us Research Program, National Institutes of Health RCV004006848 SCV004825811 likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-11-15 criteria provided, single submitter clinical testing The c.4384_4387del (p.Ser1462*) variant in the DSP gene creates a premature translation stop signal. This change is predicted 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 the general population according to gnomAD. Therefore, the c.4384_4387del (p.Ser1462*) variant in the DSP gene has been classified as likely pathogenic.

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