Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003780981 | SCV004569560 | pathogenic | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2024-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn503Lysfs*19) in the SCN2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 28379373). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with intellectual disability (PMID: 23020937). For these reasons, this variant has been classified as Pathogenic. |