ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)

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
MGZ Medical Genetics Center RCV002289018 SCV002581356 likely pathogenic Alzheimer disease 3 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003097769 SCV003442349 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2022-05-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant affects PSEN1 function (PMID: 27930341, 29915376). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant is also known as ΔS169, Ser169del. This variant has been observed in individuals with clinical features of PSEN1-related conditions (PMID: 19853643; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.507_509del, results in the deletion of 1 amino acid(s) of the PSEN1 protein (p.Ser170del), but otherwise preserves the integrity of the reading frame.

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.