ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.511G>A (p.Ala171Thr)

dbSNP: rs762117658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519513 SCV000619474 uncertain significance not provided 2018-04-16 criteria provided, single submitter clinical testing The A171T variant of uncertain significance in the SKI gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at any significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A171T 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. Moreover, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, this variant has not been observed in a significant number of affected individuals and it lacks both segregation and functional studies which would further clarify its pathogenicity. Therefore, additional evidence is needed to determine whether this variant is pathogenic or benign.

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