ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)

dbSNP: rs752241086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785240 SCV002026154 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
GeneDx RCV003120687 SCV003798642 pathogenic not provided 2022-07-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24504326, 26846157, 24839611)

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