ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)

dbSNP: rs942355738
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808724 SCV000948841 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-08-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 653036). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This premature translational stop signal has been observed in individual(s) with myotonic atonic epilepsy (PMID: 28053010). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg111*) 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).
3billion RCV003152736 SCV003841745 pathogenic Developmental and epileptic encephalopathy, 43 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with GABRB3 related disorder (ClinVar ID: VCV000653036 / PMID: 28053010). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
GeneDx RCV004721626 SCV005327110 pathogenic not provided 2024-03-22 criteria provided, single submitter clinical testing Nonsense 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; Published functional studies demonstrate a damaging effect (PMID: 28053010); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37621067, 28053010, HuangT2022[Review])

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