ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3830T>G (p.Leu1277Ter)

dbSNP: rs786204169
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004567362 SCV002212909 pathogenic Familial adenomatous polyposis 1 2024-08-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1277*) in the APC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1567 amino acid(s) of the APC protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with familial adenomatous polyposis (PMID: 23159591). ClinVar contains an entry for this variant (Variation ID: 188239). This variant disrupts a region of the APC protein in which other variant(s) (p.Tyr2645Lysfs*14) have been determined to be pathogenic (PMID: 1316610, 8381579, 9824584, 22135120, 27081525; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.