ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.717G>C (p.Trp239Cys)

dbSNP: rs137853082
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007884 SCV000284874 pathogenic Peutz-Jeghers syndrome 2016-01-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. An experimental study has shown that this missense change impairs the kinase function of STK11 by disrupting association with its binding partners STRAD and MO25 (PMID: 15561763). In addition, multiple PJS-associated missense mutations have been reported in this region, suggesting that this is an important domain for STK11 function (PMID: 20497868, 11389158, 17924967). This variant has been reported in two individuals affected with Peutz-Jeghers syndrome (PJS) (PMID: 12372054, 24054548). ClinVar contains an entry for this variant (Variation ID: 7458). This variant is not present in population databases (rs137853082, ExAC no frequency). This sequence change replaces tryptophan with cysteine at codon 239 of the STK11 protein (p.Trp239Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine.
OMIM RCV000007884 SCV000028089 pathogenic Peutz-Jeghers syndrome 2002-10-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000007884 SCV000510528 likely pathogenic Peutz-Jeghers syndrome 2016-05-13 no assertion criteria provided literature only

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.