ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val)

dbSNP: rs796052551
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187645 SCV000241242 pathogenic not provided 2023-07-04 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect of M817V, including enhanced agonist potency, prolonged synaptic-like response time course, reduced sensitivity to endogenous negative modulators, and increased channel mean open time and single-channel open probability (Chen et al., 2017); 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: 24903190, 25046240, 30544257, 34720871, 31366017, 30099049, 27839871, 35069111, 30217972, 28126851)
Institute of Human Genetics, University of Leipzig Medical Center RCV001781551 SCV002026155 likely pathogenic Landau-Kleffner syndrome 2019-01-01 criteria provided, single submitter research

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