ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys) (rs63750450)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640610 SCV000762204 pathogenic Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 115 of the PSEN1 protein (p.Tyr115Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several families affected with early onset Alzheimer's disease (PMID: 27777022, 28350801, 9384602). This variant has also been reported to segregate with early onset Alzheimer's disease in a single family (PMID: 9384602). ClinVar contains an entry for this variant (Variation ID: 98015). Experimental studies have shown that this missense change alters protein function (PMID: 25921538). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000084295 SCV000843414 pathogenic not provided 2015-11-13 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084295 SCV000116431 not provided not provided no assertion provided not provided

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.