Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092401 | SCV001248897 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001873454 | SCV002228406 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2022-12-30 | criteria provided, single submitter | clinical testing | 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 872113). This variant has been observed in individuals with clinical features of GABRB3-related conditions (Invitae). This variant is present in population databases (rs377463653, gnomAD 0.002%). This sequence change falls in intron 5 of the GABRB3 gene. It does not directly change the encoded amino acid sequence of the GABRB3 protein. It affects a nucleotide within the consensus splice site. |