ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1751del (p.Glu584fs) (rs727505077)

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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 RCV000156517 SCV000206236 likely pathogenic Primary dilated cardiomyopathy 2015-11-20 criteria provided, single submitter clinical testing The p.Glu584Glyfs variant in DSP has been identified by our laboratory in 1 indi vidual with DCM. It was absent from large population studies. This variant is pr edicted to cause a frameshift, which alters the protein?s amino acid sequence be ginning at position 584 and lead to a premature termination codon 52 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the DSP gene is an established diseas e mechanism in individuals with ARVC and DCM. In summary, this variant is likel y to be pathogenic, though additional studies are required to fully establish it s clinical significance.

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