ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile)

gnomAD frequency: 0.00001  dbSNP: rs763886355
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349486 SCV001543834 benign Adams-Oliver syndrome 5 2023-10-09 criteria provided, single submitter clinical testing
GeneDx RCV001527334 SCV001738305 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Genome-Nilou Lab RCV001349486 SCV002553933 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271224 SCV002553934 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002413825 SCV002716129 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-02-05 criteria provided, single submitter clinical testing The p.V584I variant (also known as c.1750G>A), located in coding exon 11 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1750. The valine at codon 584 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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.