ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Genetic Services Laboratory, University of Chicago RCV000193875 SCV000246509 pathogenic Coffin-Siris syndrome 1 2015-08-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.