ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7865C>T (p.Pro2622Leu)

dbSNP: rs267600320
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
Counsyl RCV000662519 SCV000785068 uncertain significance Familial adenomatous polyposis 1 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV003650363 SCV002202283 uncertain significance Familial adenomatous polyposis 1 2023-05-08 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2622 of the APC protein (p.Pro2622Leu). This variant is present in population databases (rs267600320, gnomAD 0.0009%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. ClinVar contains an entry for this variant (Variation ID: 75619). This variant has not been reported in the literature in individuals affected with APC-related conditions.
Myriad Genetics, Inc. RCV000662519 SCV004018816 uncertain significance Familial adenomatous polyposis 1 2023-02-22 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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.