ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) (rs797045272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193875 SCV000246509 pathogenic Coffin-Siris syndrome 1 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000578614 SCV000680673 pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing The R750X variant in the ARID1B gene has been reported previously as assumed de novo in two unrelated individuals with Coffin-Siris syndrome (Wieczorek et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R750X variant is not observed in large population cohorts (Lek et al., 2016). It is reported as pathogenic in ClinVar by a different clinical laboratory, but additional evidence is not available (ClinVar SCV000246509.1; Landrum et al., 2016). We interpret R750X as a pathogenic variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000578614 SCV001250190 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing

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