ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) (rs587783029)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144563 SCV000647439 pathogenic Familial adenomatous polyposis 1 2018-05-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 1663 (p.Glu1663*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated APC protein by eliminating ~1750 amino acid residues (~62%) from the full length protein. This variant is not present in population databases (ExAC no frequency). This particular variant has been reported in individuals with familial adenomatous polyposis (FAP) syndrome (PMID:10077047, 20685668, 20223039, 19331226). ClinVar contains an entry for this variant (Variation ID: 156475). A different truncation downstream of this variant (p.Ser1276*) has been determined to be pathogenic (PMID: 18433509, 9452101). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000563288 SCV000675936 pathogenic Hereditary cancer-predisposing syndrome 2017-05-09 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Pathway Genomics RCV000144563 SCV000189855 pathogenic Familial adenomatous polyposis 1 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202095 SCV000256970 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.