ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.3236T>C (p.Ile1079Thr) (rs727503742)

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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 RCV000152654 SCV000202004 uncertain significance not specified 2014-08-11 criteria provided, single submitter clinical testing The Ile1079Thr variant in VCL has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Ile1079Thr varian t is uncertain.

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