ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.818G>A (p.Arg273Gln)

dbSNP: rs750249658
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
Illumina Laboratory Services, Illumina RCV000357738 SCV000366158 uncertain significance Epilepsy, familial temporal lobe, 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002229856 SCV001535762 uncertain significance Autosomal dominant epilepsy with auditory features 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 273 of the LGI1 protein (p.Arg273Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Rubenstein-Taybi syndrome and/or epilepsy (PMID: 29133209). ClinVar contains an entry for this variant (Variation ID: 301656). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LGI1 protein function with a negative predictive value of 80%. 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.

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.