Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041040 | SCV001204634 | uncertain significance | Brugada syndrome 4 | 2022-07-15 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 299561). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs745337273, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 367 of the CACNB2 protein (p.Val367Ile). |
Ambry Genetics | RCV002446549 | SCV002734559 | uncertain significance | Cardiovascular phenotype | 2019-11-01 | criteria provided, single submitter | clinical testing | The p.V367I variant (also known as c.1099G>A), located in coding exon 11 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1099. The valine at codon 367 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |