Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232057 | SCV001404602 | uncertain significance | Joubert syndrome 15 | 2021-02-04 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the CEP41 gene (p.Trp372*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2 amino acids of the CEP41 protein. This variant is present in population databases (rs139909606, ExAC 0.01%). This variant has not been reported in the literature in individuals with CEP41-related conditions. 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. |