ClinVar Miner

Submissions for variant NM_000038.6(APC):c.288T>G (p.Tyr96Ter) (rs376213437)

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
Ambry Genetics RCV000491545 SCV000579865 pathogenic Hereditary cancer-predisposing syndrome 2016-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000555518 SCV000647280 pathogenic Familial adenomatous polyposis 1 2017-04-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 96 (p.Tyr96*) of 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. This particular variant has been reported in the literature in an individual affected with familial adenomatous polyposis (FAP)(PMID: 20685668). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202141 SCV000256959 pathogenic not provided no assertion criteria provided research

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.