ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)

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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 RCV003043555 SCV003342626 likely pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-07-22 criteria provided, single submitter clinical testing This variant, c.398_400dup, results in the insertion of 1 amino acid(s) of the GABRB3 protein (p.Gly133dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of GABRB3-related conditions (Invitae). In at least one individual the variant was observed to be de novo. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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