ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1098C>G (p.Ser366Arg) (rs1553200726)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522318 SCV000620752 uncertain significance not provided 2017-09-22 criteria provided, single submitter clinical testing The S366R variant in the SKI gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S366R variant is not observed in large population cohorts (Lek et al., 2016). The S366R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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. We interpret S366R as a variant of uncertain significance.

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