ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)

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
Invitae RCV002943282 SCV003276114 benign Adams-Oliver syndrome 5 2022-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170686 SCV003861510 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-01 criteria provided, single submitter clinical testing The p.I1631V variant (also known as c.4891A>G), located in coding exon 26 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 4891. The isoleucine at codon 1631 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.