ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3997A>G (p.Lys1333Glu)

dbSNP: rs1580642594
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
Ambry Genetics RCV001021608 SCV001183246 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-21 criteria provided, single submitter clinical testing The p.K1333E variant (also known as c.3997A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 3997. The lysine at codon 1333 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.