ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys)

dbSNP: rs767497870
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 RCV001338651 SCV001532337 benign Adams-Oliver syndrome 5 2022-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035867 SCV003631782 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-07-08 criteria provided, single submitter clinical testing The c.7126C>A (p.Q2376K) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 7126, causing the glutamine (Q) at amino acid position 2376 to be replaced by a lysine (K). 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.