ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer)

dbSNP: rs1554098222
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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 RCV000645382 SCV000767127 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2017-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 23720301, 24407264). This variant has not been reported in the literature in individuals with GABRG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser226*) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product.

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