ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2848dup (p.Ile950fs) (rs397516927)

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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 RCV000038020 SCV000061686 likely pathogenic Primary dilated cardiomyopathy 2012-05-25 criteria provided, single submitter clinical testing The Ile950fs variant in DSP has not been reported in the literature nor previous ly identified by our laboratory. This frameshift variant is predicted to alter t he protein?s amino acid sequence beginning at position 950 and lead to a prematu re termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Frameshift and nonsense variants in D SP have been reported in patients with ARVC (, but rec ent evidence supports that they can also cause DCM (Elliott 2010, Garcia-Pavia 2 011). In summary, this variant is likely to be pathogenic, though segregation st udies and functional analyses are required to fully establish its pathogenicity.

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