ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.847G>A (p.Val283Ile)

gnomAD frequency: 0.00001  dbSNP: rs1057522580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419763 SCV000528448 uncertain significance not provided 2016-05-31 criteria provided, single submitter clinical testing The V283I variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This 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 V283I 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 Valine 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. We interpret V283I as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001828419 SCV004650219 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828419 SCV002089015 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-28 no assertion criteria provided clinical testing

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