Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233713 | SCV000836516 | pathogenic | Autosomal dominant epilepsy with auditory features | 2017-09-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LGI1 are known to be pathogenic (PMID: 24206907). This variant has not been reported in the literature in individuals with LGI1-related disease. This sequence change creates a premature translational stop signal (p.Ser129*) in the LGI1 gene. It is expected to result in an absent or disrupted protein product. |