ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441802 SCV002752211 uncertain significance Inborn genetic diseases 2017-09-07 criteria provided, single submitter clinical testing The p.R94H variant (also known as c.281G>A), located in coding exon 4 of the GABRA1 gene, results from a G to A substitution at nucleotide position 281. The arginine at codon 94 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003326632 SCV004032640 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing GABRA1: PM2, PP2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV003775386 SCV004609353 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GABRA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1796428). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GABRA1 protein function. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 94 of the GABRA1 protein (p.Arg94His).

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