ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.876C>T (p.Tyr292=) (rs148928808)

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 RCV000160978 SCV000213907 likely benign Hereditary cancer-predisposing syndrome 2016-06-01 criteria provided, single submitter clinical testing
Color RCV000160978 SCV000686699 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
Counsyl RCV000196327 SCV000489038 likely benign Peutz-Jeghers syndrome 2016-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000213022 SCV000211688 benign not specified 2014-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000213022 SCV000920284 uncertain significance not specified 2018-11-30 criteria provided, single submitter clinical testing Variant summary: The variant, STK11 c.876C>T alters a non-conserved nucleotide resulting in a synonymous change and was absent in 165620 control chromosomes (gnomAD). 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. This variant has been reported in the literature in individuals affected with Peutz-Jeghers Syndrome (Scott _2002). This report does not provide unequivocal conclusions about association of the variant with Peutz-Jeghers Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000196327 SCV000253264 likely benign Peutz-Jeghers syndrome 2017-12-28 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.