ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu)

dbSNP: rs74315291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700252 SCV005201743 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing Published transgenic mouse and rat models harboring this variant demonstrate spontaneous seizures during periods of increased EEG delta wave activity which would correlate with slow-wave sleep in humans (Manfredi et al., 2009; Shiba et al., 2015); 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: 19237585, 20603624, 11062464, 27336596, 25565544, 28717674, 11512019, 15245761, 23934645, 18342259, 33924731, 15843070, 17662253, 12015163, 22897520, 21704022, 36835631, 17900292, 26072248, 21091316, 12681012, 12773798, 11952766, 15130686, 33689168, 23123803, 26309560, 33284031, 28761347, 33255633, 26561946, 35513164, 11893908, 16815873, 36796465, 12887446, 12782965, 12823585, 25104926, 11579434, 26091610, 11904236, 19153075)
Department of Neurology, Zibo Changguo Hospital RCV000019047 SCV005889667 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3 2025-01-08 criteria provided, single submitter clinical testing PS3, PM1, PM5, PM2_Supporting+PS4_Supporting
OMIM RCV000019047 SCV000039334 pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 3 2000-11-01 no assertion criteria provided literature only

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