ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser)

gnomAD frequency: 0.00010  dbSNP: rs765844768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362613 SCV001558642 benign Adams-Oliver syndrome 5 2023-06-25 criteria provided, single submitter clinical testing
GeneDx RCV001664851 SCV001872923 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV001362613 SCV002553410 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271228 SCV002553411 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341765 SCV002639847 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-03-08 criteria provided, single submitter clinical testing The c.4537G>A (p.G1513S) 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 4537, causing the glycine (G) at amino acid position 1513 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.