ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs) (rs727504738)

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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 RCV000156036 SCV000205749 likely pathogenic Primary dilated cardiomyopathy 2013-08-23 criteria provided, single submitter clinical testing The Ala164fs variant in DSP has not been reported in individuals with cardiomyop athy or in large population studies. This frameshift variant is predicted to alt er the protein?s amino acid sequence beginning at position 164 and lead to a pre mature termination codon 23 amino acids downstream. This alteration is then pred icted to lead to a truncated or absent protein. Frameshift and nonsense variants in DSP are common in patients with ARVC (http://arvcdatabase.info/), but recent evidence supports that they can also cause DCM (Elliott 2010, Garcia-Pavia 2011 ). In summary, this variant is likely to be pathogenic, though additional studie s are required to fully establish its clinical significance.

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