ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.2176_2177dup (p.His727fs) (rs1554294665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482938 SCV000567363 pathogenic not provided 2015-07-14 criteria provided, single submitter clinical testing The c.2176_2177dupCC duplication in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.2176_2177dupCC duplication causes a frameshift starting with codon Histidine 727, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 19 of the new reading frame, denoted p.His727LeufsX19. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Protein truncating variants downstream of this duplication have been reported in the Human Gene Mutation Database in association with ARID1B-related disorders (Stenson et al., 2014), supporting the pathogenicity of more upstream protein truncating variants. The c.2176_2177dupCC duplication 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.2176_2177dupCC as a pathogenic variant.

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