ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro)

dbSNP: rs1892473840
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323917 SCV001514852 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 153 of the GABRB3 protein (p.Leu153Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). 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. 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. This variant has not been reported in the literature in individuals with GABRB3-related conditions.

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