ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln)

dbSNP: rs1554515367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042803 SCV002295002 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2022-03-19 criteria provided, single submitter clinical testing 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 not expected to disrupt CHRNA2 protein function. 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. 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 lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 101 of the CHRNA2 protein (p.Lys101Gln).
Ambry Genetics RCV004612095 SCV005104255 uncertain significance Inborn genetic diseases 2024-05-22 criteria provided, single submitter clinical testing The c.301A>C (p.K101Q) alteration is located in exon 4 (coding exon 3) of the CHRNA2 gene. This alteration results from a A to C substitution at nucleotide position 301, causing the lysine (K) at amino acid position 101 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.