Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657882 | SCV000779645 | likely benign | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 21703448, 27622563) |
Invitae | RCV001349497 | SCV001543846 | likely benign | Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352069 | SCV002656133 | uncertain significance | Inborn genetic diseases | 2017-12-15 | criteria provided, single submitter | clinical testing | The p.T20I variant (also known as c.59C>T), located in coding exon 1 of the GABRA1 gene, results from a C to T substitution at nucleotide position 59. The threonine at codon 20 is replaced by isoleucine, an amino acid with similar properties. This variant has been detected in patient(s) with sporadic idiopathic epilepsy, but not in controls (Klassen T et al. Cell, 2011 Jun;145:1036-48). The threonine residue is located in signal peptide; the T20I mutant protein did not reduce current, but resulted in gating defect (Hernandez CC et al. PLoS ONE, 2016 Sep;11:e0162883). This amino acid position is not well conserved in available 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. |