ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.3823delinsCATGAGCCCA (p.Tyr1275delinsHisGluProAsn) (rs1554233151)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598666 SCV000710519 likely pathogenic not provided 2018-01-29 criteria provided, single submitter clinical testing The c.3823delTins10 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 an in-frame deletion of the Tyrosine 1275 residue, and insertion of four amino acids, denoted p.Tyr1275delinsHisGluProAsn. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3823delTins10 as a likely pathogenic variant.

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