ClinVar Miner

Submissions for variant NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser)

gnomAD frequency: 0.00018  dbSNP: rs188598190
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172098 SCV000054721 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Athena Diagnostics RCV000172098 SCV000843424 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054033 SCV002433667 likely benign Alzheimer disease 4 2024-06-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469043 SCV002766040 uncertain significance not specified 2022-11-11 criteria provided, single submitter clinical testing Variant summary: PSEN2 c.166G>A (p.Gly56Ser) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 282204 control chromosomes (gnomAD). c.166G>A has been reported in the literature in individuals affected with Parkinson Disease (Ibanez_2018) and Alzheimer Disease (Shim_2022). These reports do not provide unequivocal conclusions about association of the variant with Alzheimer Disease 4. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters have assessed the variants since 2014: all classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
PreventionGenetics, part of Exact Sciences RCV003927573 SCV004741615 likely benign PSEN2-related disorder 2022-08-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.