Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002043967 | SCV002111996 | uncertain significance | Brugada syndrome 4 | 2021-10-21 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs760174810, ExAC 0.001%). This sequence change falls in intron 11 of the CACNB2 gene. It does not directly change the encoded amino acid sequence of the CACNB2 protein. |