ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.818dup (p.Asn274fs)

dbSNP: rs1758828554
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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 RCV001882613 SCV002243753 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-22 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 21606390, 27532257). ClinVar contains an entry for this variant (Variation ID: 1184590). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn274Glufs*15) 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).
Genomics England Pilot Project, Genomics England RCV001542754 SCV001760187 likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma no assertion criteria provided clinical testing

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