ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1682G>A (p.Cys561Tyr) (rs1057518399)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414275 SCV000491997 likely pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing The C561Y variant in the TP63 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C561Y variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C561Y variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. While in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function, missense variants at this residue (C561G, C561R, C561W) and in nearby residues (G557V, L562P, F565L) have been reported in the Human Gene Mutation Database in association with AEC syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, we interpret C561Y as a likely pathogenic variant; however, the possibility it may be a rare benign variant cannot be completely excluded.

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