ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter) (rs773740590)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624544 SCV000741662 pathogenic Inborn genetic diseases 2016-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000578964 SCV000680674 pathogenic not provided 2018-04-30 criteria provided, single submitter clinical testing The R1337X variant in the ARID1B gene has been reported previously in an individual with features of Coffin-Siris syndrome (Santen et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1337X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R1337X as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000578297 SCV000680143 pathogenic Coffin-Siris syndrome 1 2017-09-08 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.