ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.715A>C (p.Lys239Gln)

dbSNP: rs746993242
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489085 SCV000577665 likely pathogenic not provided 2015-07-28 criteria provided, single submitter clinical testing The K239Q variant in the CHRNE gene has not been published as a pathogenic variant nor has it been reported as a benign polymorphism to our knowledge. The K239Q variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K239Q variant is a semi-conservative change at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (R238W/L, L241F) have been reported in the Human Gene Mutation Database in association with myasthenic syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. The K239Q variant is a strong candidate for a disease-causing variant, however the possibility it may be a rare benign variant cannot be excluded

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.