ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu)

dbSNP: rs1555401426
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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 RCV000646102 SCV000767859 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2017-10-31 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with GABRB3-related disease. This sequence change replaces lysine with glutamic acid at codon 304 of the GABRB3 protein (p.Lys304Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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