ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1886dup (p.Leu629fs) (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
Invitae RCV000195881 SCV000255230 pathogenic Familial adenomatous polyposis 1 2015-04-29 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 15 of the APC mRNA (c.1886dupT), causing a frameshift at codon 629. This creates a premature translational stop signal (p.Leu629Phefs*5) and is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation was reported in individuals affected with familial adenomatous polyposis (PMID: 20223039, 20685668), and has been observed in affected patients in the Universal Mutation Database (PMID: 24599579). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000493455 SCV000581415 pathogenic Hereditary cancer-predisposing syndrome 2015-07-16 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)

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.