ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.226C>T (p.Gln76Ter) (rs1554105614)

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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 RCV000616141 SCV000713099 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2017-06-13 criteria provided, single submitter clinical testing The p.Gln76X variant in DSP has not been previously reported in individuals with cardiomyopathy or in large population studies. This nonsense variant leads to a premature termination codon at position 76, which is predicted to lead to a tru ncated or absent protein. Heterozygous loss of function of the DSP gene is an es tablished disease mechanism in individuals with arrhythmogenic right ventricular cardiomyopathy, and has recently been associated with dilated cardiomyopathy. I n summary, although additional studies are required to fully establish its clini cal significance, the p.Gln76X variant is likely pathogenic.

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