Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001210713 | SCV001382212 | uncertain significance | Brugada syndrome 4 | 2023-06-05 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 941011). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs771011929, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 554 of the CACNB2 protein (p.Arg554His). |
| Ambry Genetics | RCV003294020 | SCV003997213 | uncertain significance | Cardiovascular phenotype | 2023-06-01 | criteria provided, single submitter | clinical testing | The p.R554H variant (also known as c.1661G>A), located in coding exon 13 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1661. The arginine at codon 554 is replaced by histidine, an amino acid with highly similar 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. |