Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000238893 | SCV000297408 | uncertain significance | not specified | 2015-09-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000238893 | SCV000518418 | likely benign | not specified | 2015-08-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001857841 | SCV002270542 | uncertain significance | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2021-10-14 | criteria provided, single submitter | clinical testing | This variant has been observed in at least one individual who was not affected with GABRG2-related conditions (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 252809). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the GABRG2 gene. It does not directly change the encoded amino acid sequence of the GABRG2 protein. It affects a nucleotide within the consensus splice site of the intron. |