ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser)

dbSNP: rs116317506
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 RCV001698487 SCV000727699 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Invitae RCV001868074 SCV002302260 benign Adams-Oliver syndrome 5 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368103 SCV002656554 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-08 criteria provided, single submitter clinical testing The p.G2152S variant (also known as c.6454G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6454. The glycine at codon 2152 is replaced by serine, an amino acid with 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV002368103 SCV004239539 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-07 criteria provided, single submitter clinical testing

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.