Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455411 | SCV000538569 | uncertain significance | not specified | 2016-08-12 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband with early repolarization syndrome |
Ambry Genetics | RCV003168714 | SCV003887014 | uncertain significance | Cardiovascular phenotype | 2023-02-27 | criteria provided, single submitter | clinical testing | The p.R571C variant (also known as c.1711C>T), located in coding exon 13 of the CACNB2 gene, results from a C to T substitution at nucleotide position 1711. The arginine at codon 571 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
Invitae | RCV003766472 | SCV004619645 | uncertain significance | Brugada syndrome 4 | 2023-07-17 | 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. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 571 of the CACNB2 protein (p.Arg571Cys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of CACNB2-related conditions (PMID: 20817017). ClinVar contains an entry for this variant (Variation ID: 402475). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. |