ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.920+7G>A (rs2075607)

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
Color RCV000580582 SCV000686703 likely benign Hereditary cancer-predisposing syndrome 2016-10-11 criteria provided, single submitter clinical testing
Counsyl RCV000198532 SCV000489081 likely benign Peutz-Jeghers syndrome 2016-08-16 criteria provided, single submitter clinical testing
GeneDx RCV000421028 SCV000517969 likely benign not specified 2017-12-21 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 RCV000589890 SCV000696733 uncertain significance not provided 2016-12-16 criteria provided, single submitter clinical testing Variant summary: The STK11 c.920+7G>A variant involves the alteration of a non-conserved intronic nucleotide that 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts alterations to ESE binding, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 2/27158 (1/13579), which does exceed the estimated maximal expected allele frequency for a pathogenic STK11 variant of 1/158730. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although a clinical diagnostic laboratory cites the variant as "likely benign." Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000198532 SCV000253265 likely benign Peutz-Jeghers syndrome 2017-10-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000589890 SCV000806090 likely benign not provided 2017-05-04 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.