ClinVar Miner

Submissions for variant NM_000484.4(APP):c.1090C>T (p.Leu364Phe)

dbSNP: rs749453173
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000800168 SCV000939868 uncertain significance Alzheimer disease 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 364 of the APP protein (p.Leu364Phe). This variant is present in population databases (rs749453173, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with APP-related conditions. ClinVar contains an entry for this variant (Variation ID: 645976). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001090099 SCV001245563 uncertain significance Primary degenerative dementia of the Alzheimer type, presenile onset 2019-10-28 criteria provided, single submitter research

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.