ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)

gnomAD frequency: 0.00001  dbSNP: rs1417478070
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315091 SCV000739432 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-08-16 criteria provided, single submitter clinical testing The p.D1698N variant (also known as c.5092G>A), located in coding exon 27 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 5092. The aspartic acid at codon 1698 is replaced by asparagine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6395 samples (12790 alleles) with coverage at this position. This amino acid position is highly 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.
Invitae RCV001323610 SCV001514533 likely benign Adams-Oliver syndrome 5 2023-07-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001323610 SCV002553368 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270885 SCV002553370 uncertain significance Aortic valve disease 1 2022-03-15 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.