ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.610G>C (p.Val204Leu) (rs727504585)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788187 SCV000927219 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155758 SCV000205469 uncertain significance not specified 2013-05-30 criteria provided, single submitter clinical testing The Val204Leu variant in VCL has not been reported in individuals with cardiomyo pathy or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive e nough to rule out pathogenicity. Additional information is needed to fully asses s the clinical significance of this variant.

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