ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)

dbSNP: rs1764627724
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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 RCV001055187 SCV001219563 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2020-03-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GABRG2-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 298 of the GABRG2 protein (p.Lys298Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine.
GeneDx RCV002298862 SCV002587972 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004528361 SCV004111373 likely pathogenic GABRG2-related disorder 2023-01-17 criteria provided, single submitter clinical testing The GABRG2 c.893A>C variant is predicted to result in the amino acid substitution p.Lys298Thr. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant was observed de-novo in heterozygous state in a patient with relevant phenotype at PreventionGenetics. This variant is interpreted as likely pathogenic.

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