ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1198G>T (p.Gly400Cys) (rs201361282)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172501 SCV000051351 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152644 SCV000201980 uncertain significance not specified 2014-01-24 criteria provided, single submitter clinical testing The Gly400Cys variant in VCL has not been reported in individuals with cardiomyo pathy, but has been identified in 1/1324 European chromosomes by the ClinSeq pro ject (dbSNP rs201361282). Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, and SIFT) do not provide strong support for or aga inst an impact to the protein. Additional information is needed to fully assess the clinical significance of the Gly400Cys variant.

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