Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037410 | SCV001200821 | uncertain significance | Brugada syndrome 4 | 2021-10-23 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 213 of the CACNB2 protein (p.Lys213Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs771875189, ExAC 0.007%). This missense change has been observed in individual(s) with sudden unexplained death (PMID: 29016939). This variant is also known as c.800A>G (p.K267R). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Mayo Clinic Laboratories, |
RCV001507778 | SCV001713539 | uncertain significance | not provided | 2021-02-18 | criteria provided, single submitter | clinical testing |