Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001404719 | SCV001606628 | likely benign | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2018-11-06 | criteria provided, single submitter | clinical testing | |
| New York Genome Center | RCV001836924 | SCV002097955 | uncertain significance | Developmental and epileptic encephalopathy, 74 | 2021-02-12 | criteria provided, single submitter | clinical testing | The inherited c.1153-8C>G variant identified in the GABRG2 gene is an intronic variant at the -8 (non-canonical) position of intron 9/9 of GABRG2 (NM_198904.2). This variant is absent from gnomAD(v3.1) suggesting it is not a common benign variant in the populations represented in that database. SpliceAI does not predict this variant to alter splicing, although the Transcript inferred Pathogenicity Score (TraP) score for this variant is 0.277, which is >95% score-percentile, suggesting it is possibly damaging to splicing. This variant is reported by a single submitter in ClinVar as Likely Benign (VarID:794672), although specific criteria used for this classification was not available for our review. To our current knowledge this variant has not been reported in affected individuals in the literature, although variants within the final exon of GABRG2, which would presumably be affected by this variant were it to alter splicing, have been reported [PMID:27066572, 27367160]. Given the lack of compelling evidence for its pathogenicity, the inherited c.1153-8C>G variant identified in the GABRG2 gene is reported as a Variant of Uncertain Significance. |