ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4878_4890del (p.Thr1627fs) (rs1554236045)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627641 SCV000748641 pathogenic not provided 2018-04-24 criteria provided, single submitter clinical testing The c.4878_4890del13 variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4878_4890del13 variant causes a frameshift starting with codon Threonine 1627, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 9 of the new reading frame, denoted p.Thr1627SerfsX9. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4878_4890del13 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4878_4890del13as a pathogenic variant.

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