ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)

gnomAD frequency: 0.00016  dbSNP: rs55855125
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 RCV000186947 SCV000240518 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing The R483Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R483Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, this amino acid substitution is not predicted to occur within the transmembrane region of the protein, where the vast majority of pathogenic missense variants have been identified in association with epilepsy (Steinlein et al., 2010). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Center for Precision Medicine, Vanderbilt University Medical Center RCV000760164 SCV000889981 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2018-03-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001231085 SCV001403590 benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485264 SCV002785737 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 2021-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430734 SCV004150890 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing

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.