ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.426C>T (p.Ser142=) (rs758448869)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162753 SCV000213229 likely benign Hereditary cancer-predisposing syndrome 2014-09-02 criteria provided, single submitter clinical testing
Invitae RCV000197625 SCV000253253 benign Peutz-Jeghers syndrome 2017-12-28 criteria provided, single submitter clinical testing
Color RCV000162753 SCV000537425 likely benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507005 SCV000602223 likely benign not specified 2016-10-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588667 SCV000696718 likely benign not provided 2017-01-19 criteria provided, single submitter clinical testing Variant summary: The STK11 c.426C>T (p.Ser142Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/50790 control chromosomes at a frequency of 0.0000591, which is approximately 9 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
PreventionGenetics,PreventionGenetics RCV000588667 SCV000806078 likely benign not provided 2017-08-11 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.