ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1478A>G (p.His493Arg) (rs947189709)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418029 SCV000532782 uncertain significance not provided 2016-10-25 criteria provided, single submitter clinical testing The H493R variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H493R 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 H493R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. As an alternate mechanism, multiple in silico algorithms predict this sequence change might create a cryptic donor site in exon 9 which may supplant the natural donor site. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. We interpret H493R as a variant of uncertain significance.

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