ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)

dbSNP: rs2229992
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000000868 SCV001209262 pathogenic Familial adenomatous polyposis 1 2022-03-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial adenomatous polyposis (PMID: 7959691, 9487968). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 825). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr486*) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).
OMIM RCV000000868 SCV000021018 pathogenic Familial adenomatous polyposis 1 1997-11-01 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.