ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2617G>C (p.Glu873Gln) (rs967071645)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440229 SCV000530826 uncertain significance not provided 2016-08-17 criteria provided, single submitter clinical testing The E873Q variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E873Q 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 E873Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E873Q as a variant of uncertain significance.

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