Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002048770 | SCV002313221 | uncertain significance | Brugada syndrome 4 | 2021-10-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This variant occurs in a non-coding region of the CACNB2 gene. It does not change the encoded amino acid sequence of the CACNB2 protein. This variant has not been reported in the literature in individuals affected with CACNB2-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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. |