ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4405C>G (p.Gln1469Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060503288
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 RCV003766565 SCV000552542 uncertain significance Familial adenomatous polyposis 1 2016-10-26 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change replaces glutamine with glutamic acid at codon 1469 of the APC protein (p.Gln1469Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
Color Diagnostics, LLC DBA Color Health RCV000580689 SCV000681662 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580689 SCV002631866 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-14 criteria provided, single submitter clinical testing The p.Q1469E variant (also known as c.4405C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 4405. The glutamine at codon 1469 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.