ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) (rs121912997)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598733 SCV000709901 likely pathogenic not provided 2018-02-13 criteria provided, single submitter clinical testing The R1267X variant in the DSP gene has been reported previously as homozygous in a three-year-old male patient with arrhythmogenic dilated cardiomyopathy with left and right ventricular involvement, epidermolytic palmoplantar keratoderma, and woolly hair who died from heart failure at four years of age (Uzumcu et al., 2006). The R1267X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Although the heterozygous parents and brother were reported to be unaffected, RT-PCR performed on skin sample from a heterozygous parent suggested this variant results in an unstable transcript likely degraded by nonsense mediated mRNA decay (Uzumca et al., 2006). Other nonsense variants in the DSP gene have been reported in Human Gene Mutation Database in association with DSP-related disorders (Stenson et al., 2014). Furthermore, the R1267X variant is not observed in large population cohorts (Lek et al., 2016).
OMIM RCV000018339 SCV000038618 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma 2006-02-01 no assertion criteria provided literature only
Blueprint Genetics RCV000157195 SCV000206919 likely pathogenic Primary dilated cardiomyopathy; Long QT syndrome 2014-07-10 no assertion criteria provided clinical testing

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