ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1786G>T (p.Val596Leu) (rs774196267)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442849 SCV000536583 uncertain significance not provided 2018-01-17 criteria provided, single submitter clinical testing The V596L variant has not beenpublished as pathogenic or been reported as benign to our knowledge. It is not observed in the ExAC dataset (Lek etal., 2016). The V596L substitution occurs at a position that is conserved across species. However, this variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure as these residues sharesimilar properties. In addition, in silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function.

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