Total submissions: 2
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, |
RCV002487662 | SCV002782195 | likely pathogenic | Epilepsy, familial temporal lobe, 1 | 2022-05-03 | criteria provided, single submitter | clinical testing |