ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6254G>A (p.Arg2085His) (rs1057517948)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413472 SCV000491154 likely pathogenic not provided 2016-09-21 criteria provided, single submitter clinical testing The R2085H variant in the ATRX gene is a recurrent variant that has been identified in multiple unrelated patients with alpha thalassemia X-linked intellectual disability (Badens et al., 2006; Lacoste et al., 2014). The R2085H 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 R2085H variant is a conservative amino acid substitution, which occurs in the helicase C-terminal domain at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The R2085H variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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