ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.526G>A (p.Asp176Asn) (rs730881979)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000429467 SCV000629121 pathogenic Peutz-Jeghers syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 176 of the STK11 protein (p.Asp176Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (rs730881979, ExAC no frequency). This variant has been reported in individuals affected with Peutz-Jeghers syndrome (PJS) (PMID: 24652667, 24604241, 17924967), and has been shown to segregate with PJS in a single family (PMID: 9399902, 9837816). ClinVar contains an entry for this variant (Variation ID: 182907). Experimental studies have shown that although this missense change does not alter the subcellular localization and PTEN binding capacity of the STK11 protein, it does cause the loss of kinase activity and failure to phosphorylate the PTEN protein (PMID: 9837816, 10441497, 15987703). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000760083 SCV000889861 pathogenic not provided 2018-03-16 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000429467 SCV000510525 likely pathogenic Peutz-Jeghers syndrome 2016-05-13 no assertion criteria provided literature only

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.