ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1792G>A (p.Val598Ile) (rs397517235)

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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 RCV000038806 SCV000062484 uncertain significance not specified 2011-09-07 criteria provided, single submitter clinical testing The Val598Ile variant has not been reported in the literature but has been detec ted in 1 out of >350 Caucasian probands tested by our laboratory. Valine (Val) at position 598 is conserved across evolutionarily distant species, increasing t he likelihood that the change would not be tolerated. However, three computation al tools (AlignGVGD, Polyphen2, and SIFT) predict this change to be benign, thou gh their accuracy is unknown. Therefore, in the absence of additional data, the clinical significance of this variant cannot be determined at this time.

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