ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val)

dbSNP: rs397515420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002225272 SCV002504138 pathogenic not provided 2022-02-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate significantly altered conduction in the mutated channel resulting in loss of function (Orhan et al., 2014; variant published as M518V due to alternate nomenclature); This variant is associated with the following publications: (PMID: 30008368, 22275249, 27602407, 24318194, 27054081)
OMIM RCV000032980 SCV000056755 pathogenic Developmental and epileptic encephalopathy, 7 2012-01-01 no assertion criteria provided literature only
GeneReviews RCV000032980 SCV000484629 not provided Developmental and epileptic encephalopathy, 7 no assertion provided literature only EE (epileptic encephalopathy)

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