ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1397T>C (p.Leu466Pro) (rs727504661)

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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 RCV000155925 SCV000205636 uncertain significance not specified 2014-03-07 criteria provided, single submitter clinical testing The Leu466Pro variant in DSP has now been identified by our laboratory in 1 Ashk enazi Jewish adult with DCM/ARVC and was absent from large population studies. C omputational prediction tools and conservation analysis suggest that this varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. Additional information is needed to fully assess the clin ical significance of this variant.

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