ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1517C>T (p.Pro506Leu) (rs876657793)

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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 RCV000213102 SCV000271721 uncertain significance not specified 2015-04-13 criteria provided, single submitter clinical testing The p.Pro506Leu variant in DSP has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. Computational p rediction tools and conservation analysis suggest that this variant may impact t he protein, though this information is not predictive enough to determine pathog enicity. In summary, the clinical significance of the p.Pro506Leu variant is unc ertain.

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