ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.364A>C (p.Lys122Gln)

dbSNP: rs1555737463
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
Invitae RCV000632827 SCV000754023 uncertain significance Peutz-Jeghers syndrome 2017-08-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STK11-related disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 122 of the STK11 protein (p.Lys122Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine.

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.