ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys)

dbSNP: rs771610568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000576877 SCV000678277 pathogenic Intellectual disability, autosomal dominant 8 2018-01-09 no assertion criteria provided literature only
Institute of experimental medicine CAS – Neurochemistry department., Institute of Experimental Medicine, Czech Academy of Science RCV002293244 SCV002574799 not provided not provided no assertion provided in vitro The N650K variant has been reported in patient with severe developmental delay and seizures. Patient showed hand-washing, hand-wringing, hand-mouthing stereotypical movements, dyskinesia, bruxism (Lemke et al., 2016 PMID: 27164704; Ohba et al., 2015 PMID: 25864721).

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