ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)

dbSNP: rs1943228378
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
Baylor Genetics RCV001332971 SCV001525438 likely pathogenic Coffin-Siris syndrome 6 2019-12-02 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001533065 SCV001748885 likely pathogenic ARID2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV004783956 SCV005396658 pathogenic not provided 2024-05-10 criteria provided, single submitter clinical testing De novo variant with confirmed parentage or mosaic in unrelated patients with developmental disorders in published literature; however, detailed clinical information was not provided (PMID: 33057194, 33057194); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34906496, 35982159, 33057194)

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.