ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His)

gnomAD frequency: 0.00004  dbSNP: rs756874994
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 RCV000545147 SCV000659477 benign Adams-Oliver syndrome 5 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159949 SCV003894504 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-09 criteria provided, single submitter clinical testing The p.R2095H variant (also known as c.6284G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6284. The arginine at codon 2095 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.

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.