ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.1524_1525dup (p.Thr509fs) (rs1554248273)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486208 SCV000566399 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing The c.1524_1525dupGA duplication in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.1524_1525dupGA duplication causes a frameshift starting with codon Threonine 509, changes this amino acid to an Arginine residue and creates a premature Stop codon at position15 of the new reading frame, denoted p.Thr509ArgfsX15. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1524_1525dupGA variant was not observed in approximately 5200individuals 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.1524_1525dupGA as apathogenic variant.

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