ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.549G>A (p.Arg183=)

dbSNP: rs1761390378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322433 SCV001513303 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-03-26 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1022515). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 183 of the GABRG2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GABRG2 protein. It affects a nucleotide within the consensus splice site.

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