ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu)

gnomAD frequency: 0.00006  dbSNP: rs121912244
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
GeneDx RCV000711166 SCV000564880 uncertain significance not provided 2021-10-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21683344)
Invitae RCV000537667 SCV000658088 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711166 SCV000841496 uncertain significance not provided 2017-11-17 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084615 SCV000116751 not provided Tobacco use disorder no assertion provided not provided

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.