Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040963 | SCV001204556 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-08-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln172*) in the CHRNA4 gene. It is expected to 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. This variant is present in population databases (rs112748821, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CHRNA4-related conditions. This premature translational stop signal has been observed in at least one individual who was not affected with CHRNA4-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 839252). 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. |
Athena Diagnostics Inc | RCV002473170 | SCV002770469 | uncertain significance | not provided | 2022-06-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002473170 | SCV004225514 | uncertain significance | not provided | 2022-12-07 | criteria provided, single submitter | clinical testing |