ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1615C>T (p.Gln539Ter) (rs727504498)

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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 RCV000155634 SCV000205342 likely pathogenic Primary dilated cardiomyopathy 2013-03-27 criteria provided, single submitter clinical testing The Gln539X variant has not been reported in the literature nor previously ident ified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS), which increases the likeliho od that it is pathogenic. However, we cannot exclude that it may be common in ot her populations. This nonsense variant leads to a premature termination codon a t position 539 which is predicted to lead to a truncated or absent protein. Fra meshift and nonsense variants in DSP have been reported in patients with ARVC (h ttp://arvcdatabase.info/), but recent evidence supports that they can also cause DCM (Elliott 2010, Garcia-Pavia 2011). In summary, this variant is likely to b e pathogenic, though additional studies are required to fully establish its clin ical significance.

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