ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)

dbSNP: rs1057519550
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000416972 SCV000494552 likely pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766176 SCV004570867 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 124 of the GABRB3 protein (p.Leu124Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 27864847, 34698933, 35383156). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 375532). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GABRB3 protein function. Experimental studies have shown that this missense change affects GABRB3 function (PMID: 35383156). For these reasons, this variant has been classified as Pathogenic.

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