ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) (rs767730615)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199076 SCV000250671 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing p.Tyr313Cys (Y313C) TAT>TGT: c.938 A>G in exon 1 of the SKI gene (NM_003036.3) A variant of unknown significance has been identified in the SKI gene. The Y313C variant has not been published as a mutation or been reported as a benign polymorphism to our knowledge. The Y313C 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 through mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, no missense mutations in nearby residues have been reported, indicating that this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in TAADV2-1

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