ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6097A>G (p.Ile2033Val) (rs1057521636)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428289 SCV000523878 uncertain significance not provided 2016-02-27 criteria provided, single submitter clinical testing The I2033V variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I2033V 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 I2033V 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 where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. A missense variants in a nearby residue (D2035V) have been reported in the Human Gene Mutation Database in association with ATRX syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret I2033V as a variant of uncertain significance.

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