Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002230371 | SCV000548371 | pathogenic | Autosomal dominant epilepsy with auditory features | 2022-10-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln230*) in the LGI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LGI1 are known to be pathogenic (PMID: 24206907). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 408592). This variant has not been reported in the literature in individuals affected with LGI1-related conditions. This variant is not present in population databases (gnomAD no frequency). |