ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser)

dbSNP: rs759847671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313670 SCV000848884 uncertain significance Inborn genetic diseases 2017-01-26 criteria provided, single submitter clinical testing The p.N366S variant (also known as c.1097A>G), located in coding exon 9 of the GABRB3 gene, results from an A to G substitution at nucleotide position 1097. The asparagine at codon 366 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001862042 SCV002216849 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-03-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 366 of the GABRB3 protein (p.Asn366Ser). This variant is present in population databases (rs759847671, gnomAD 0.003%). 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: 588733). 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 not expected to disrupt GABRB3 protein function with a negative predictive value of 95%. 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.

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