ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.540del (p.Asn181fs)

dbSNP: rs1131690939
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657247 SCV000778977 pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21118512)
MGZ Medical Genetics Center RCV002289947 SCV002579129 pathogenic Peutz-Jeghers syndrome 2022-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343400 SCV002649307 pathogenic Hereditary cancer-predisposing syndrome 2020-01-09 criteria provided, single submitter clinical testing The c.540delG pathogenic mutation, located in coding exon 4 of the STK11 gene, results from a deletion of one nucleotide at nucleotide position 540, causing a translational frameshift with a predicted alternate stop codon (p.N181Tfs*106). 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 RCV002289947 SCV003443798 pathogenic Peutz-Jeghers syndrome 2023-09-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 545746). This sequence change creates a premature translational stop signal (p.Asn181Thrfs*106) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 21118512).
Myriad Genetics, Inc. RCV002289947 SCV004933433 pathogenic Peutz-Jeghers syndrome 2024-02-12 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift 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.