ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg)

gnomAD frequency: 0.00001  dbSNP: rs549630973
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000458674 SCV000548940 likely benign Adams-Oliver syndrome 5 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022715 SCV005027176 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-12 criteria provided, single submitter clinical testing The p.G1157R variant (also known as c.3469G>A), located in coding exon 21 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3469. The glycine at codon 1157 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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.