ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.444C>T (p.Phe148=)

gnomAD frequency: 0.00001  dbSNP: rs1283208395
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 RCV002211734 SCV002357623 likely benign Peutz-Jeghers syndrome 2022-03-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002211734 SCV004828495 uncertain significance Peutz-Jeghers syndrome 2023-09-04 criteria provided, single submitter clinical testing This variant is located in the STK11 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with STK11-related disorders in the literature. This variant has been identified in 1/31310 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.