ClinVar Miner

Submissions for variant NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) (rs1060502053)

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 RCV000468265 SCV000548369 pathogenic Familial temporal lobe epilepsy 1 2016-07-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the LGI1 mRNA at codon 376 (p.Trp376*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated LGI1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a LGI1-related disease. A different nonsense variant that is further downstream (p.Arg474*) has been shown to segregate with disease and determined to be pathogenic (PMID: 11978770, 15349881). This suggests that a domain critical for LGI1 protein function is likely disrupted in these variants. For these reasons, this variant has been classified as Pathogenic.

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.