ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.902G>A (p.Arg301Gln) (rs370222210)

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
Invitae RCV000197149 SCV000254561 uncertain significance Peutz-Jeghers syndrome 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 301 of the STK11 protein (p.Arg301Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs370222210, ExAC 0.009%). This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 216435). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.
Color Health, Inc RCV000583301 SCV000691559 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-17 criteria provided, single submitter clinical testing
Counsyl RCV000197149 SCV000785104 uncertain significance Peutz-Jeghers syndrome 2017-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583301 SCV001179952 likely benign Hereditary cancer-predisposing syndrome 2017-12-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification

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.