ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3520_3521del (p.Lys1174fs) (rs886041493)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000398804 SCV000330158 pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing The c.3520_3521delAA pathogenic variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Lysine-1174, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Lys1174AlafsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3520_3521delAA variant was not observed in approximately 6500 individuals 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.3520_3521delAA as a pathogenic variant.

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