Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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) |
Uni |
RCV000059541 | SCV000091073 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided |