ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.454G>A (p.Gly152Ser)

dbSNP: rs2113381632
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001823416 SCV002072828 uncertain significance not provided 2022-01-17 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University RCV001823416 SCV004174136 pathogenic not provided 2023-02-18 criteria provided, single submitter research

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