ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2140C>T (p.Arg714Cys) (rs1361712039)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522009 SCV000620179 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SKI gene. The R714C variant has not been published as pathogenic or been reported as benign to our knowledge. Data from control individuals was not available to assess whether R714C may be a common benign variant in the general population. (Lek et al., 2016; Exome Variant Server). The R714C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with a SKI-related disorder (Stenson et al., 2014).

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