ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)

gnomAD frequency: 0.00001  dbSNP: rs1376907797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995773 SCV001150113 likely pathogenic Developmental and epileptic encephalopathy, 19 2019-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869391 SCV002122082 pathogenic Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 147 of the GABRA1 protein (p.Arg147Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of GABRA1-related conditions (PMID: 35937053; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 807607). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV000995773 SCV004027799 likely pathogenic Developmental and epileptic encephalopathy, 19 2023-06-19 criteria provided, single submitter clinical testing Criteria applied: PS2,PS4_MOD,PM2_SUP,PP2,PP3

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