Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233483 | SCV000762018 | pathogenic | Autosomal dominant epilepsy with auditory features | 2020-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Ile547Asnfs*8) that lies downstream of this variant has been determined to be likely pathogenic (PMID: 11810107, 18711109, 15857855). This suggests that deletion of this region of the LGI1 protein is causative of disease. This variant has not been reported in the literature in individuals with LGI1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the LGI1 gene (p.Thr390Lysfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 168 amino acids of the LGI1 protein. |