ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.5540A>T (p.Tyr1847Phe) (rs1057521987)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000441528 SCV000602618 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622556 SCV000742591 uncertain significance Inborn genetic diseases 2017-05-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
GeneDx RCV000766491 SCV000525416 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing The Y1847F variant in the ATRX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Y1847F 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 Y1847F 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. In addition, 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 Y1847F as a variant of uncertain significance

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