Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000657556 | SCV000779293 | uncertain significance | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CHRNA2 gene. The c.1393delC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1393delC variant is observed in 1/24030 (0.004%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The c.1393delC variant in the CHRNA2 gene causes a frameshift starting with codon Histidine 465, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.His465ThrfsX25. This frameshift variant is predicted to result in protein truncation as the last 65 amino acids are lost and replaced with 24 incorrect amino acids. However, loss-of-function variants have not been reported downstream of this position in the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Invitae | RCV000798125 | SCV000937724 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2022-11-08 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002493067 | SCV002778246 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2022-02-14 | criteria provided, single submitter | clinical testing |