Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001046971 | SCV001210898 | uncertain significance | Brugada syndrome 4 | 2022-10-24 | 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 666376). This variant is also known as c.1735G>A p.V579M. This missense change has been observed in individual(s) with Brugada syndrome (PMID: 28341588, 30847666). This variant is present in population databases (rs544535665, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 525 of the CACNB2 protein (p.Val525Met). |
Fulgent Genetics, |
RCV001046971 | SCV002783274 | uncertain significance | Brugada syndrome 4 | 2021-09-09 | criteria provided, single submitter | clinical testing |