ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)

dbSNP: rs121918757
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435635 SCV000520959 pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing Identified in an individual with intractable childhood epilepsy with generalized tonic-clonic seizures (Fujiwara T et al., 2003) and in an individual with Dravet syndrome (Berkvens JJ et al., 2015); Published functional studies demonstrate that the variant disrupts normal sodium channel function (Rhoades TH et al., 2005); 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; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 15346159, 15277629, 23884151, 26005841, 26076853, 28102150, 31086826, 16210358, 12566275)
UniProtKB/Swiss-Prot RCV000059541 SCV000091073 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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