ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.475C>T (p.Gln159Ter)

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
Ambry Genetics RCV002337663 SCV002640371 pathogenic Hereditary cancer-predisposing syndrome 2021-10-01 criteria provided, single submitter clinical testing The p.Q159* pathogenic mutation (also known as c.475C>T), located in coding exon 4 of the STK11 gene, results from a C to T substitution at nucleotide position 475. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This variant has been reported in a Danish cohort of individuals diagnosed with Peutz-Jeghers syndrome (Jelsig AM et al. Int J Colorectal Dis. 2016 May;31:997-1004). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV003507415 SCV004297969 pathogenic Peutz-Jeghers syndrome 2022-11-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 26979979). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln159*) in the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113).
Myriad Genetics, Inc. RCV003507415 SCV004931261 pathogenic Peutz-Jeghers syndrome 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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.