ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.1360C>T (p.Gln454Ter) (rs1057518213)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413510 SCV000491661 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing The Q454X variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q454X variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. We interpret Q454X as a pathogenic variant

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