Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 | |
Gene |
RCV000032980 | SCV000484629 | not provided | Developmental and epileptic encephalopathy, 7 | no assertion provided | literature only | EE (epileptic encephalopathy) |