ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2672G>C (p.Gly891Ala) (rs727503740)

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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 RCV000152650 SCV000201992 uncertain significance not specified 2013-04-26 criteria provided, single submitter clinical testing The Gly891Ala 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) do not provide st rong support for or against an impact to the protein. At this time, additional i nformation is needed to fully assess the clinical significance of this variant.

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