ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1301C>T (p.Ala434Val)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV003159278 SCV003852644 likely pathogenic Alzheimer disease 3 2023-04-02 criteria provided, single submitter clinical testing The c.1301C>T p.(Ala434Val) variant affects the PAL motif critical for catalytic activity of the macromolecular γ-secretase complex. Evolutionary and integrated bioinformatic tools predicted a deleterious effect of the variant supporting its role in the AD pathogenesis. The same aminoacid is changed into Cys and reported pathogenic for Alzheimer's disease.

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.