ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter)

dbSNP: rs1758361435
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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 RCV001060789 SCV001225500 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2019-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser32*) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GABRG2-related conditions. This variant is not present in population databases (ExAC no frequency).

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