ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys)

dbSNP: rs1563318247
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
Invitae RCV000701345 SCV000830144 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2022-09-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 578363). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CHRNA2 protein function. This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 310 of the CHRNA2 protein (p.Phe310Cys).

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.