ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter)

dbSNP: rs1554108172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626865 SCV000747568 likely pathogenic Ventricular arrhythmia; Right ventricular cardiomyopathy 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV001389691 SCV001591141 pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-02-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). This variant has not been reported in the literature in individuals with DSP-related conditions. ClinVar contains an entry for this variant (Variation ID: 523474). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu1265*) in the DSP gene. It is expected to result in an absent or disrupted protein product.

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