ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1247C>T (p.Ala416Val) (rs775044622)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197794 SCV000250679 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing p.Ala416Val (GCG>GTG): c.1247 C>T in exon 4 of the SKI gene (NM_003036.3) A variant of unknown significance has been identified in the SKI gene. The A416V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A416V variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across vertebrates. Moreover, in silico analysis predicts that this variant is likely damaging to the protein structure/function. Nevertheless, the A416V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Furthermore, 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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