ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1501G>A (p.Val501Ile) (rs368778031)

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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 RCV000154708 SCV000204388 uncertain significance not specified 2014-08-08 criteria provided, single submitter clinical testing The Val501Ile variant in DSP has not been previously reported in individuals wit h cardiomyopathy, but has been identified in 1/8600 of European American chromos omes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Computational prediction tools and conservation analysis do not provide strong s upport for or against an impact to the protein. In summary, the clinical signifi cance of the Val501Ile variant is uncertain.

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