Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002403836 | SCV002708387 | uncertain significance | Cardiovascular phenotype | 2022-05-24 | criteria provided, single submitter | clinical testing | The p.R554L variant (also known as c.1661G>T), located in coding exon 13 of the CACNB2 gene, results from a G to T substitution at nucleotide position 1661. The arginine at codon 554 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003100778 | SCV002975437 | uncertain significance | Brugada syndrome 4 | 2022-03-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 554 of the CACNB2 protein (p.Arg554Leu). |