ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter) (rs1554238072)

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
Ambry Genetics RCV000717396 SCV000848246 pathogenic History of neurodevelopmental disorder 2016-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000523285 SCV000616640 pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing The R2128X variant in the ARID1B gene has been reported previously as a de novo variant in an individual with Coffin-Siris syndrome (Wieczorek et al., 2013). This variant is predicted to cause loss of normal protein function through protein truncation, as the last 122 amino acids are lost. Furthermore, the R2128X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, the presence of the R2128X pathogenic variant is consistent with the diagnosis of an ARID1B-related disorder in this individual.

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.