ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser)

dbSNP: rs587777365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115032 SCV001817440 pathogenic not provided 2024-05-09 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; This variant is associated with the following publications: (PMID: 23216579, 24798517, 28717674, 31087664, 31004928, 21714819)
OMIM RCV000115032 SCV000148941 uncertain significance not provided 2011-07-01 no assertion criteria provided literature only

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