ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys)

gnomAD frequency: 0.00001  dbSNP: rs769743354
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645389 SCV000767134 uncertain significance Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 32 of the GABRA1 protein (p.Gln32Lys). This variant is present in population databases (rs769743354, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of GABRA1-related conditions (PMID: 35937053). ClinVar contains an entry for this variant (Variation ID: 536749). 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 not expected to disrupt GABRA1 protein function with a negative predictive value of 95%. 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 RCV002317400 SCV000851710 uncertain significance Inborn genetic diseases 2017-06-07 criteria provided, single submitter clinical testing The p.Q32K variant (also known as c.94C>A), located in coding exon 2 of the GABRA1 gene, results from a C to A substitution at nucleotide position 94. The glutamine at codon 32 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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