ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3279T>G (p.Phe1093Leu) (rs199539973)

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 RCV000206527 SCV000260677 uncertain significance Familial adenomatous polyposis 1 2015-09-16 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1093 of the APC protein (p.Phe1093Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in any individuals in the large population databases (rs199539973, ExAC no frequency), but has been observed once in CSAgilent population database. It has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506632 SCV000602511 uncertain significance not specified 2016-09-30 criteria provided, single submitter clinical testing

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.