ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile)

gnomAD frequency: 0.00004  dbSNP: rs756553428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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