ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) (rs587782127)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130666 SCV000185552 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000205704 SCV000260414 uncertain significance Familial adenomatous polyposis 1 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 2463 of the APC protein (p.Glu2463Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs587782127, ExAC 0.003%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 141943). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Counsyl RCV000205704 SCV000488389 uncertain significance Familial adenomatous polyposis 1 2016-03-21 criteria provided, single submitter clinical testing
Color RCV000130666 SCV000681862 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985318 SCV001133364 uncertain significance not provided 2018-10-09 criteria provided, single submitter clinical testing
Mendelics RCV000205704 SCV001136943 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing

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.