ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter)

dbSNP: rs549251133
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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 RCV001215572 SCV001387324 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2019-06-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu250*) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product.

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