ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.81-5C>G

dbSNP: rs201579427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927037 SCV002206461 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002423067 SCV002681771 uncertain significance Inborn genetic diseases 2019-07-30 criteria provided, single submitter clinical testing The c.81-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 2 in the GABRB3 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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