ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1228G>A (p.Val410Ile)

gnomAD frequency: 0.00010  dbSNP: rs121912272
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001090872 SCV000240474 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21683344)
Ambry Genetics RCV002316283 SCV000851365 uncertain significance Inborn genetic diseases 2016-12-01 criteria provided, single submitter clinical testing The p.V410I variant (also known as c.1228G>A), located in coding exon 5 of the CHRNA4 gene, results from a G to A substitution at nucleotide position 1228. The valine at codon 410 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001090872 SCV001246634 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
Invitae RCV002514505 SCV003248736 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-07-27 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084600 SCV000116736 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.