ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003239070 SCV003936391 pathogenic not provided 2024-07-11 criteria provided, single submitter clinical testing Identified in 2 siblings with generalized epilepsy who also harbored a second GABRA5 variant and in an individual with febrile and absence seizures (PMID: 30033060, 35627257); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35627257, 30033060)
Labcorp Genetics (formerly Invitae), Labcorp RCV003779867 SCV004573275 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe151Serfs*19) in the GABRG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRG2 are known to be pathogenic (PMID: 22539854, 22750526, 24407264). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with seizures (PMID: 35627257). ClinVar contains an entry for this variant (Variation ID: 2507179). For these reasons, this variant has been classified as Pathogenic.

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