ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.179dup (p.Tyr60Ter) (rs876661012)

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
GeneDx RCV000216923 SCV000279175 pathogenic not provided 2018-02-26 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted STK11 c.179dupA at the cDNA level and p.Tyr60Ter (Y60X) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TCTT[dupA]CGGC. The duplication creates a nonsense variant, which changes a Tyrosine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. STK11 c.179dupA has been observed in individuals reported as having Peutz-Jeghers syndrome (Aretz 2005, Salloch 2010, Wang 2014). Additionally, the adjacent variants STK11 c.180C>G and c.180C>A, which also result in a premature stop codon at this residue (p.Tyr60Ter), have been reported in several individuals meeting clinical diagnostic criteria for Peutz-Jeghers syndrome (Wang 1999, Olschwang 2001, Lim 2003, Zhao 2012, Li 2017). We therefore consider STK11 c.179dupA to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000216923 SCV000602217 pathogenic not provided 2017-01-07 criteria provided, single submitter clinical testing

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.