Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708464 | SCV000837574 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2018-07-03 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CHRNA4 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with CHRNA4-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNA4 cause disease. 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. |
Invitae | RCV001389625 | SCV001591047 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2020-02-22 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 8-17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with KCNQ2-related disease. Sub-genic deletions of exons 9-17 and exons 13-17 have been determined to be pathogenic (PMID: 23360469, 9425895, 14534157). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic. |