ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3359G>A (p.Gly1120Glu)

dbSNP: rs28933379
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
Labcorp Genetics (formerly Invitae), Labcorp RCV004566664 SCV003278100 uncertain significance Familial adenomatous polyposis 1 2021-12-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 802). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1120 of the APC protein (p.Gly1120Glu).
All of Us Research Program, National Institutes of Health RCV003996070 SCV004831422 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-04-27 criteria provided, single submitter clinical testing
OMIM RCV000000839 SCV000020989 pathogenic Gastric cancer 1992-06-01 no assertion criteria provided literature only

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.