ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6464G>A (p.Gly2155Glu) (rs1057518599)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413710 SCV000492391 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing The G2155E variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G2155E 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 G2155E 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 helicase ATP-binding domain and region for interaction with MECP2, at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret G2155E as a variant of uncertain significance.

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