ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.558C>T (p.Thr186=) (rs749563734)

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 RCV000573277 SCV000664315 likely benign Hereditary cancer-predisposing syndrome 2014-10-13 criteria provided, single submitter clinical testing
Color RCV000573277 SCV000691516 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589376 SCV000696721 uncertain significance not provided 2017-03-16 criteria provided, single submitter clinical testing Variant summary: The STK11 c.558C>T (p.Thr186Thr) 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. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/73946 control chromosomes at a frequency of 0.0000541, which is approximately 3 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000156), suggesting this variant is likely a benign polymorphism. However, the small number of carriers in this control population do not allow for an unequivocal benign classification. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a VUS - possibly benign variant.
Invitae RCV000475672 SCV000554121 likely benign Peutz-Jeghers syndrome 2017-10-31 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.