ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.214C>T (p.Gln72Ter) (rs397516923)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038006 SCV000061672 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2008-05-16 no assertion criteria provided clinical testing The p.Gln72X variant in DSP has not been reported in the literature or in large population studies. This nonsense variant leads to a premature termination codon at position 72, which is predicted to lead to a truncated or absent protein. He terozygous loss of function of the DSP gene is an established disease mechanism in individuals with autosomal dominant ARVC. In summary, although additional stu dies are required to fully establish its clinical significance, this variant mee ts criteria to be classified as likely pathogenic for autosomal dominant ARVC. A CMG/AMP Criteria applied: PVS1, PM2.

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