ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.769+2T>C

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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 RCV003807909 SCV004591820 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2022-12-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 22539854). Disruption of this splice site has been observed in individual(s) with clinical features of GABRG2-related conditions (PMID: 12117362). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 6 of the GABRG2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264).

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