ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr)

gnomAD frequency: 0.00003  dbSNP: rs375102032
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 RCV001339213 SCV001532941 benign Adams-Oliver syndrome 5 2023-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382535 SCV004092526 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-17 criteria provided, single submitter clinical testing The p.M1858T variant (also known as c.5573T>C), located in coding exon 30 of the NOTCH1 gene, results from a T to C substitution at nucleotide position 5573. The methionine at codon 1858 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, 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.