Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003595878 | SCV004295661 | pathogenic | Autosomal dominant epilepsy with auditory features | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg474*) in the LGI1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 84 amino acid(s) of the LGI1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of LGI1-related conditions (PMID: 11978770, 15349881). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is also known as C1320T. ClinVar contains an entry for this variant (Variation ID: 208478). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects LGI1 function (PMID: 17067999). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000193378 | SCV000025949 | pathogenic | Epilepsy, familial temporal lobe, 1 | 2004-09-01 | no assertion criteria provided | literature only | |
| Gene |
RCV000193378 | SCV000245373 | not provided | Epilepsy, familial temporal lobe, 1 | no assertion provided | literature only |