ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.914C>T (p.Ala305Val)

dbSNP: rs1555401425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781148 SCV002025233 likely pathogenic Developmental and epileptic encephalopathy, 43 2021-05-14 criteria provided, single submitter clinical testing
GeneDx RCV004719173 SCV005325394 pathogenic not provided 2023-06-01 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect and show that the coupling junction uncouples during activation and causes gain of function (Hernandez et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28053010, 28488083, 31435640, 29162865, 34698933, 26544041)

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