ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.668G>A (p.Cys223Tyr) (rs1557142844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520463 SCV000620771 likely pathogenic not provided 2017-09-11 criteria provided, single submitter clinical testing The C223Y variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C223Y variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C223Y 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 in the ADD domain at a position that is conserved across species. Half of all reported missense variants in ATRX occur in the ADD domain and are presumed to have structural consequences on the ATRX protein and impact histone methylation (Argentaro et al., 2007; Iwase et al., 2011; Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C223Y as a likely pathogenic variant.

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