ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4456C>T (p.Gln1486Ter) (rs1064793482)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478760 SCV000566234 pathogenic not provided 2015-04-14 criteria provided, single submitter clinical testing The Q1486X variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. Q1486X was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. We interpret Q1486X as a pathogenic variant.

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