ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)

dbSNP: rs139163545
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514914 SCV000609639 likely benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV001504628 SCV001709514 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2021-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000514914 SCV004012558 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing Published in vitro functional assays indicate that p.(R147W) does not reduce current or expression but does significantly alter channel gating and is predicted to result in structural perturbations (Hernandez et al., 2016); 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: 29273096, 26934580, 27622563)

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