ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)

dbSNP: rs779794980
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
Ambry Genetics RCV002410611 SCV002723314 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-20 criteria provided, single submitter clinical testing The c.1915G>A (p.E639K) alteration is located in exon 12 (coding exon 12) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 1915, causing the glutamic acid (E) at amino acid position 639 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003586365 SCV004343778 likely benign Adams-Oliver syndrome 5 2023-05-01 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.