ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.565G>C (p.Val189Leu) (rs151045204)

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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 RCV000038834 SCV000062512 uncertain significance not specified 2012-09-10 criteria provided, single submitter clinical testing The Val189Leu variant in VCL has not been reported in the literature nor previou sly identified by our laboratory. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, and SIFT) suggest that the variant may not impact the protein, though this information is not predictive enough to rule ou t pathogenicity. Additional information is needed to fully assess the clinical s ignificance of this variant.

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