ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.4110+1G>C (rs1554235041)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523767 SCV000621726 pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing The c.4110+1G>C variant in the ARID1B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 17. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.4110+1G>C variant is not observed in large population cohorts (Lek et al., 2016). While the c.4110+1G>C variant has not previously been described, another variant affecting the canonical splice donor site in intron 17 (c.4110 G>A) has been reported as a de novo variant in an individual with significant developmental delay, speech delay and dysmorphic features (Hoyer et al., 2012). We interpret c.4110+1G>C as a pathogenic variant.

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.