ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1608G>T (p.Met536Ile) (rs1057518436)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413505 SCV000492059 uncertain significance not specified 2016-11-28 criteria provided, single submitter clinical testing The M536I variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M536I variant was not observed in approximately 6,500 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 M536I variant is a conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M536I as a variant of uncertain significance.

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