ClinVar Miner

Submissions for variant NC_000006.12:g.7579624del

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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 RCV000826162 SCV000967699 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2018-05-24 criteria provided, single submitter clinical testing The p.Ala1145fs variant in DSP has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. This variant is located within exon 23 of DSP which undergoes alternative splicing resulting in two isoforms: one with a shorter and one with a longer form of this exon. This variant is located within both isoforms. This variant is predicted to cause a fr ameshift, which alters the protein?s amino acid sequence beginning at position 1 145 and leads to a premature termination codon 14 amino acids downstream. This a lteration is then predicted to lead to a truncated or absent protein. Frameshift and other loss-of-function variants in DSP have been reported in patients with ARVC and DCM. In summary, although additional studies are required to fully esta blish its clinical significance, the p.Ala1145fs variant is likely pathogenic. A CMG/AMP criteria applied: PVS1, PM2.

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