ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5879T>G (p.Met1960Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005383119 SCV006039564 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-01-01 criteria provided, single submitter clinical testing The c.5879T>G (p.M1960R) alteration is located in exon 31 (coding exon 31) of the NOTCH1 gene. This alteration results from a T to G substitution at nucleotide position 5879, causing the methionine (M) at amino acid position 1960 to be replaced by an arginine (R). 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.