ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.659dup (p.Asn220fs) (rs397517245)

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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 RCV000038836 SCV000062514 likely pathogenic Primary dilated cardiomyopathy 2010-10-28 criteria provided, single submitter clinical testing The Asn220fs variant has not been reported in the literature nor been identified in any other family tested by our laboratory. This variant is predicted to caus e a frameshift, which alters the protein's amino acid sequence beginning at codo n 220 and leads to a premature stop codon 20 amino acids downstream. This altera tion is then predicted to lead to a truncated or absent protein. In addition, 3 out of 13 VCL variants previously identified in DCM patients are loss of functio n variants (LMM unpublished data). Therefore, the Asn220fs variant is likely to be pathogenic.

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