Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001314509 | SCV001505043 | uncertain significance | not provided | 2018-05-13 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 1-18 of the SCN3A gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 18 of the SCN3A gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with SCN3A-related disease. Experimental studies are not available for this variant, and the functional significance of the duplicated exons is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Labcorp Genetics |
RCV000708264 | SCV000837374 | uncertain significance | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2018-05-22 | flagged submission | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the SCN2A gene. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Gross copy number gains of the SCN2A gene have not been reported in the literature in individuals with a SCN2A-related disease. However, copy number gains at 2q24.3 encompassing SCN2A and neighboring genes have been described in individuals presenting with early onset epilepsy during the first days of life (PMID: 21893419, 23016767). The smallest report is a 507 kb interstitial duplication involving SCN2A, SCN3A, and the 5′ part of SLC38A11 that segregates with neonatal onset of seizures (PMID: 27153334). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |