ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer)

dbSNP: rs1892476410
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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 RCV001212189 SCV001383765 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 942245). This premature translational stop signal has been observed in individual(s) with GABRB3-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val136*) 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).

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