ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)

dbSNP: rs397518472
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000260469 SCV000329755 pathogenic not provided 2024-04-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25498981, 25921602, 33240831, 29655203, 23933819)
Institute of Human Genetics, University of Leipzig Medical Center RCV000074393 SCV002026193 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV000260469 SCV002063489 pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
OMIM RCV000074393 SCV000106003 pathogenic Landau-Kleffner syndrome 2013-09-01 no assertion criteria provided literature only

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