ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1580_1581del (p.His527fs)

dbSNP: rs1364913665
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
Invitae RCV002234247 SCV000934231 pathogenic Autosomal dominant epilepsy with auditory features 2023-05-05 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LGI1 protein in which other variant(s) (p.Ile547Asnfs*8) have been determined to be pathogenic (PMID: 11810107, 15857855, 18711109). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 641538). This variant has not been reported in the literature in individuals affected with LGI1-related conditions. This sequence change creates a premature translational stop signal (p.His527Argfs*4) in the LGI1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the LGI1 protein.
Fulgent Genetics, Fulgent Genetics RCV002487662 SCV002782195 likely pathogenic Epilepsy, familial temporal lobe, 1 2022-05-03 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.