ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.599G>T (p.Cys200Phe) (rs886041700)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000297533 SCV000330431 pathogenic not provided 2016-04-13 criteria provided, single submitter clinical testing The C200F pathogenic variant in the ATRX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The C200F variant was not observed in approximately 6500 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 C200F 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. 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). We interpret C200F as a pathogenic variant.

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