ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)

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 RCV002355860 SCV002647513 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-15 criteria provided, single submitter clinical testing The p.E198K variant (also known as c.592G>A), located in coding exon 4 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 592. The glutamic acid at codon 198 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098066 SCV003469966 benign Adams-Oliver syndrome 5 2023-11-27 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.