ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5389T>C (p.Phe1797Leu) (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 2017-01-04 criteria provided, single submitter clinical testing The F1808L pathogenic variant in the SCN1A gene has been reported previously in an individual with intractable childhood epilepsy with generalized tonic-clonic seizures, ataxia, mental decline, and left-hemiparesis (Fujiwara et al., 2003). It has also been identified in a patient with Dravet syndrome (Berkvens et al., 2015; Snoeijen-Schouwenaars et al., 2015). Functional studies suggest that the F1808L variant alters SCN1A protein function (Rhodes et al., 2005). The F1808L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The F1808L variant is a conservative amino acid substitution. This substitution occurs at a conserved position predicted to be within the C-terminal cytoplasmic domain, and a different missense variant in the same residue (F1808I) as well as missense variants in a nearby residue (W1812G, W1812S) have been reported in the Human Gene Mutation Database in association with SCN1A-related disorders (Stenson et al., 2014).
UniProtKB/Swiss-Prot RCV000059541 SCV000091073 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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