ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)

dbSNP: rs189199636
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058754 SCV001223345 pathogenic Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-03-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Thr289 amino acid residue in GABRA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27521439, 29186148). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 853851). This missense change has been observed in individuals with GABRA1-related conditions (PMID: 27521439; Invitae). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 289 of the GABRA1 protein (p.Thr289Ala).
CeGaT Center for Human Genetics Tuebingen RCV001815497 SCV002062640 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001815497 SCV004031749 pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27521439)

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