Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032538 | SCV001195845 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the CHRNA4 gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNA4 cause disease. A similar copy number variant has been observed in individual(s) with clinical features of CHRNA4-related conditions (Invitae). A similar copy number variant has been observed in at least one individual who was not affected with CHRNA4-related conditions (Invitae). 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. |