ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)

gnomAD frequency: 0.00003  dbSNP: rs756369937
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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 RCV000646108 SCV000767865 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 98 of the GABRB3 protein (p.Ala98Thr). This variant is present in population databases (rs756369937, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GABRB3-related conditions. ClinVar contains an entry for this variant (Variation ID: 537293). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV000763953 SCV000894900 uncertain significance Epilepsy, childhood absence, susceptibility to, 5; Developmental and epileptic encephalopathy, 43 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133441 SCV003816279 uncertain significance Developmental and epileptic encephalopathy, 43 2021-05-19 criteria provided, single submitter clinical testing

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