ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3862+1G>A (rs1554233187)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521862 SCV000620809 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing The c.3862+1G>A variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 15. 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.3862+1G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3862+1G>A as a pathogenic variant.

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