Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000519474 | SCV000619359 | likely pathogenic | not provided | 2017-07-26 | criteria provided, single submitter | clinical testing | The c.471delA variant in the GABRG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.471delA variant causes a frameshift starting with codon Alanine 158, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Ala158LeufsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.471delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.471delA as a likely pathogenic variant. |
| Labcorp Genetics |
RCV001857985 | SCV002229128 | pathogenic | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2022-02-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 450747). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala158Leufs*13) in 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). |
| Institute of Human Genetics, |
RCV003224876 | SCV003920995 | pathogenic | Febrile seizures, familial, 8 | 2023-03-13 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP |