ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr)

dbSNP: rs1057523819
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
GeneDx RCV000434097 SCV000533433 likely pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing The A465T variant in the NOTCH1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A465T variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A465T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The A465T variant is a strong candidate for a pathogenic variant.
Centre of Medical Genetics, University of Antwerp RCV000662246 SCV000747167 likely pathogenic Adams-Oliver syndrome 5 2017-12-01 criteria provided, single submitter research

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.