ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.919C>T (p.Gln307Ter) (rs1238227166)

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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 RCV000607926 SCV000731636 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-07-17 criteria provided, single submitter clinical testing The p.Gln307X variant in DSP has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 307, which is predicted to lead to a t runcated or absent protein. Frameshift and nonsense variants in DSP are strongly associated with ARVC. In summary, although additional studies are required to f ully establish its clinical significance, the p.Gln307X variant is likely pathog enic.

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