ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3526del (p.Val1176fs) (rs727505271)

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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 RCV000156797 SCV000206518 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-05-15 criteria provided, single submitter clinical testing The p.Val1176fs variant in DSP has been identified by our laboratory in 1 Caucas ian individual with ARVC and recurrent myocarditis and 1 individual with a compl ex presentation (biventricular cardiomyopathy, VT, Brugada/ARVC pattern EKG) who carried a second variant (of uncertain significance) in the SCN5A gene. Both va riants were present in a sib with reduced ejection fraction but also in the unaf fected mother. The p.Val1176fs variant was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s ami no acid sequence beginning at position 1176 and leads to a premature termination codon 20 amino acids downstream. This alteration is predicted to lead to a trun cated or absent protein. Heterozygous loss of function of the DSP gene is an est ablished disease mechanism in individuals with ARVC and/or DCM. In summary, alth ough additional studies are required to fully establish its clinical significanc e, the p.Val1176fs variant is likely pathogenic.

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