ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1146del (p.Phe382fs) (rs397516913)

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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 RCV000037985 SCV000061651 pathogenic Primary dilated cardiomyopathy 2018-12-14 criteria provided, single submitter clinical testing The p.Phe382LeufsX11 variant in DSP has been identified by our laboratory in 1 i ndividual with DCM and NSVT and segregated with disease in at least 5 affected r elatives, including 1 obligate carrier (LMM data). It was absent from large popu lation studies. This frameshift variant is predicted to alter the protein?s amin o acid sequence beginning at position 382 and lead to a premature termination co don 11 amino acids downstream. This alteration is then predicted to lead to a tr uncated or absent protein. Frameshift and nonsense variants in DSP are associate d with autosomal dominant ARVC and DCM as well as autosomal recessive keratoderm a with woolly hair. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant DCM. ACMG/AMP Criteria applied: PVS1, PM2, PP1 _Moderate.

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