Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000705340 | SCV000834332 | uncertain significance | Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 214 of the GABRB3 protein (p.Val214Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs761554616, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with GABRB3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
| Ambry Genetics | RCV002360825 | SCV002658553 | uncertain significance | Inborn genetic diseases | 2018-08-22 | criteria provided, single submitter | clinical testing | The p.V214M variant (also known as c.640G>A), located in coding exon 6 of the GABRB3 gene, results from a G to A substitution at nucleotide position 640. The valine at codon 214 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, methionine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |