ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217698 SCV001389547 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2019-06-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp281*) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN2A-related conditions. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168). For these reasons, this variant has been classified as Pathogenic.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238322 SCV002011437 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057111 SCV005725539 pathogenic Developmental and epileptic encephalopathy, 11 2024-11-27 criteria provided, single submitter clinical testing Variant summary: SCN2A c.843G>A (p.Trp281X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251232 control chromosomes (gnomAD). To our knowledge, no occurrence of c.843G>A in individuals affected with Early Infantile Epileptic Encephalopathy 11 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 946767). Based on the evidence outlined above, the variant was classified as pathogenic.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270381 SCV001450661 likely pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 2020-04-21 no assertion criteria provided clinical testing

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