ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) (rs1554108012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527367 SCV000639737 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1045 (p.Arg1045*) of the DSP gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 16061754, 20716751, 24503780). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000610239 SCV000713115 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2017-06-23 criteria provided, single submitter clinical testing The p.Arg1045X variant in DSP has not been previously reported in individuals wi th cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 1045, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the DSP gene is a n established disease mechanism in individuals with arrhythmogenic right ventric ular cardiomyopathy, and has recently been associated with dilated cardiomyopath y. In summary, although additional studies are required to fully establish its c linical significance, the p.Arg1045X variant is likely pathogenic.

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