ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.2066A>G (p.Gln689Arg) (rs929951326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717094 SCV000847940 uncertain significance History of neurodevelopmental disorder 2016-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000520365 SCV000618959 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing The Q689R variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q689R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q689R 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 predicts this variant likely does not alter the protein structure/function. We interpret Q689R as a variant of uncertain significance.

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