ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.712dup (p.Ile238fs) (rs397516956)

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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 RCV000038084 SCV000061750 likely pathogenic Primary dilated cardiomyopathy 2012-07-17 criteria provided, single submitter clinical testing The Ile238fs 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 238 and lead to a prematu re termination codon 19 amino acids downstream. This alteration is then predicte d to lead to a truncated or absent protein. In summary, this variant is likely t o be pathogenic, though additional studies are required to fully establish its c linical significance. Please note: Frameshift and nonsense variants in DSP are common in patients with ARVC (http://arvcdatabase.info/), but recent evidence su pports that they can also cause DCM (Elliott 2010, Garcia-Pavia 2011).

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