ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.6629_6651del (p.Glu2210fs) (rs886041804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000280821 SCV000330568 pathogenic not provided 2016-05-24 criteria provided, single submitter clinical testing The c.6629_6651del23 pathogenic variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6629_6651del23 variant causes a frameshift starting with codon Glutamic acid 2210, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Glu2210AlafsX24. This variant causes the last 44 amino acids of the ARID1B protein to be replaced by 23 incorrect amino acids and is predicted to cause loss of normal protein function through protein truncation. The c.6629_6651del23 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. Therefore, we interpret c.6629_6651del23 as a pathogenic variant.

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