ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1445C>T (p.Ala482Val) (rs372475723)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519637 SCV000620364 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SKI gene. The A482V variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the A482V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is only conserved in mammals. Finally, in silico analysis suggests that this variant likely does not alter the protein structure/function.

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