Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033707 | SCV001197014 | pathogenic | Epilepsy, familial temporal lobe, 1 | 2019-05-14 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the LGI1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with LGI1-related conditions. Loss-of-function variants in LGI1 are known to be pathogenic (PMID: 24206907). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001862461 | SCV002231753 | pathogenic | Autosomal dominant epilepsy with auditory features | 2019-05-10 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the LGI1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with LGI1-related conditions. Loss-of-function variants in LGI1 are known to be pathogenic (PMID: 24206907). For these reasons, this variant has been classified as Pathogenic. |