ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1886del (p.Thr628_Leu629insTer) (rs863224817)

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
GeneDx RCV000482355 SCV000568273 pathogenic not provided 2017-05-04 criteria provided, single submitter clinical testing This variant is denoted APC c.1886delT at the cDNA level and p.Leu629Ter (L629X) at the protein level. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least four individuals with a clinical history consistent with Familial Adenomatous Polyposis (Gismondi 1997, Gebert 1999, Friedl 2005, Papp 2015) and is considered pathogenic.
Invitae RCV000704796 SCV000833762 pathogenic Familial adenomatous polyposis 1 2018-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu629*) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis (PMID: 10077047, 26446593). ClinVar contains an entry for this variant (Variation ID: 419996). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). 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.