ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.794dup (p.Trp266fs)

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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 RCV005215305 SCV005858356 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp266Leufs*5) in the GABRB3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GABRB3 are known to be pathogenic (PMID: 26950270, 28053010). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GABRB3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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