ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.1276C>T (p.Arg426Trp) (rs587782687)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163116 SCV000213627 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000168123 SCV000218780 uncertain significance Peutz-Jeghers syndrome 2018-10-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 426 of the STK11 protein (p.Arg426Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals affected with gastrointestinal polyposis (PMID: 23399955). ClinVar contains an entry for this variant (Variation ID: 184011). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000168123 SCV000488069 uncertain significance Peutz-Jeghers syndrome 2015-12-18 criteria provided, single submitter clinical testing
Color RCV000163116 SCV000686613 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-09 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.