ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)

dbSNP: rs1057518045
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
GeneDx RCV000413516 SCV000491415 likely pathogenic not provided 2016-01-25 criteria provided, single submitter clinical testing The G791S variant in the ARID1B gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G791S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position where amino acids with similar properties to Glycine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The G791S variant is a strong candidate for a pathogenic variant.
Baylor Genetics RCV001336508 SCV001529910 likely pathogenic Coffin-Siris syndrome 1 2018-01-29 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001533090 SCV001748910 likely pathogenic ARID1B-related BAFopathy 2021-06-10 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.