ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.349G>C (p.Gly117Arg) (rs869312901)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000210472 SCV000266521 pathogenic Shprintzen-Goldberg syndrome criteria provided, single submitter research
GeneDx RCV000498943 SCV000589671 likely pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The G117R variant in the SKI gene has been reported in one individual with SGS, and was apparently de novo (Doyle et al., 2012). The G117R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G117R 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. 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. Western blot studies using patient skin cells suggested changes to TGF-beta signaling and likely consistent with a deleterious effect on SKI, though transfection of the variant into an external model organism was not completed (Doyle et al., 2012).

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