ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.635C>A (p.Ser212Tyr) (rs1555355250)

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
Athena Diagnostics Inc RCV000712873 SCV000843420 likely pathogenic not provided 2017-04-26 criteria provided, single submitter clinical testing
Invitae RCV001055042 SCV001219406 likely pathogenic Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 2019-03-29 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 212 of the PSEN1 protein (p.Ser212Tyr). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected Alzheimer's disease (AD) and has been observed to segregate with AD in an affected family (PMID: 21094210, 24928124, 27614114, 22343824, 22232349, 22460587, 22584618, 23085935). ClinVar contains an entry for this variant (Variation ID: 586386). This variant has been reported to affect PSEN1 protein function (PMID: 27930341). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.