ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300092 SCV001489216 uncertain significance Epilepsy, childhood absence 1; Epilepsy, childhood absence 5 2020-10-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 304 of the GABRB3 protein (p.Lys304Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GABRB3-related conditions. 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 GABRB3 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001358688 SCV001554498 likely pathogenic Epileptic encephalopathy, early infantile, 43 criteria provided, single submitter clinical testing

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