Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV004579013 | SCV005063003 | pathogenic | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2023-09-14 | criteria provided, single submitter | clinical testing | This variant results in the deletion of exons 1-5 and part of exon 6 (c.-113807_753delinsT) of the GABRG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. For these reasons, this variant has been classified as Pathogenic. |