ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.2201dup (p.Ser736fs) (rs1554294674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483600 SCV000567326 pathogenic not provided 2018-06-22 criteria provided, single submitter clinical testing The c.2201dupG variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2201dupG variant causes a frameshift starting with codon Serine 736, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Ser736IlefsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2201dupG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2201dupG as a pathogenic variant.

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