ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.406C>T (p.Arg136Ter) (rs796052504)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000844886 SCV000965581 pathogenic Lennox-Gastaut syndrome 2019-07-31 criteria provided, single submitter clinical testing
Invitae RCV001041149 SCV001204749 pathogenic Epilepsy, childhood absence 2; Familial febrile seizures 8 2019-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg136*) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with febrile seizures in several families (PMID: 24407264, 27066572). Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 23720301, 24407264). For these reasons, this variant has been classified as Pathogenic.

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