ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.5957-1G>A (rs886041903)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000306577 SCV000330700 pathogenic not provided 2016-07-26 criteria provided, single submitter clinical testing The c.5957-1G>A pathogenic variant in the ATRX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a different variant (c.5957-2A>G) affecting the same splice junction has been reported in the Human Gene Mutation Database in association with ATRX syndrome (Stenson et al., 2014). The c.5957-1G>A splice site variant destroys the canonical splice acceptor site in intron 25. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.5957-1G>A 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. We interpret c.5957-1G>A as a pathogenic variant.

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