ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2077A>T (p.Lys693Ter)

dbSNP: rs773985321
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522391 SCV000617338 pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing This variant is denoted APC c.2077A>T at the cDNA level and p.Lys693Ter (K693X) at the protein level.The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAA>TAA), and ispredicted to cause loss of normal protein function through protein truncation. This variant has been reported in at leastone individual with polyps and early onset colorectal cancer (Mutoh 2006) and is considered 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.