ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5376_5377AG[3] (p.Ala1794fs) (rs727502994)

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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 RCV000150552 SCV000197782 likely pathogenic Primary dilated cardiomyopathy 2013-10-15 criteria provided, single submitter clinical testing The Ala1794fs variant in DSP has not been previously reported in individuals wit h cardiomyopathy and data from large population studies is insufficient to asses s its frequency. This frameshift variant is predicted to alter the protein?s ami no acid sequence beginning at position 1794 and lead to a premature termination codon 25 amino acids downstream. This alteration is then predicted to lead to a truncated protein. In summary, this variant is likely pathogenic, though additio nal studies are required to fully establish its clinical significance.

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