ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.534_535insA (p.Gly179fs) (rs397516945)

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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 RCV000038063 SCV000061729 likely pathogenic Primary dilated cardiomyopathy 2017-05-09 criteria provided, single submitter clinical testing The p.Gly179fs variant in DSP has been identified by our laboratory in 1 individ ual with DCM. It has not been identified in large population studies, though the ability of these studies to accurately detect indels may be limited. This varia nt is predicted to cause a frameshift, which alters the protein?s amino acid seq uence beginning at position 179 and leads to a premature termination codon 4 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Frameshift and nonsense variants in DSP are strongly associated with DCM. In summary, although additional studies are required to fully establi sh its clinical significance, the p.Gly179fs variant is likely pathogenic.

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