Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557766 | SCV000647060 | uncertain significance | Brugada syndrome 4 | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 452 of the CACNB2 protein (p.Arg452Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs111250176, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 299563). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV000557766 | SCV002816321 | uncertain significance | Brugada syndrome 4 | 2021-09-21 | criteria provided, single submitter | clinical testing |