ClinVar Miner

Submissions for variant NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs) (rs886041706)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000364376 SCV000330438 pathogenic not provided 2016-04-15 criteria provided, single submitter clinical testing The c.5570_5573delAAGA pathogenic variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Lysine 1857, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Lys1857SerfsX17. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5570_5573delAAGA 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. We interpret c.5570_5573delAAGA as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000503710 SCV000593414 pathogenic Coffin-Siris syndrome 1 2017-01-29 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000503710 SCV000898142 pathogenic Coffin-Siris syndrome 1 2018-07-19 no assertion criteria provided clinical testing
OMIM RCV000503710 SCV000902411 pathogenic Coffin-Siris syndrome 1 2019-05-09 no assertion criteria provided literature only

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.