ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser)

gnomAD frequency: 0.00001  dbSNP: rs763685504
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 RCV000811787 SCV000952073 benign Adams-Oliver syndrome 5 2022-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028742 SCV004990174 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-29 criteria provided, single submitter clinical testing The c.4417G>A (p.G1473S) alteration is located in exon 25 (coding exon 25) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4417, causing the glycine (G) at amino acid position 1473 to be replaced by a serine (S). Based on insufficient or conflicting evidence, 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.