ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.7334T>A (p.Ile2445Asn) (rs1057520923)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418730 SCV000520047 uncertain significance not provided 2015-10-04 criteria provided, single submitter clinical testing The I2445N variant in the ATRX gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The I2445N 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 I2445N variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret I2445N as a variant of uncertain significance.

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