ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.1079dup (p.Ser361fs) (rs1289468231)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481640 SCV000566381 pathogenic not provided 2015-05-19 criteria provided, single submitter clinical testing The c.1079dupG duplication in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.1079dupG duplication causes a frameshiftstarting with codon Serine 361, changes this amino acid to a Leucine residue and creates a premature Stopcodon at position 174 of the new reading frame, denoted p.Ser361LeufsX174. This variant is predicted tocause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. The c.1079dupG variant was not observed in approximately 300 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. We interpret c.1079dupG as a pathogenic variant.

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