Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002885887 | SCV003243112 | uncertain significance | Brugada syndrome 4 | 2021-12-10 | 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. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs766100830, gnomAD 0.009%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 232 of the CACNB2 protein (p.Leu232Val). |
| Ambry Genetics | RCV004065968 | SCV003745299 | uncertain significance | Cardiovascular phenotype | 2022-07-27 | criteria provided, single submitter | clinical testing | The c.694C>G (p.L232V) alteration is located in exon 7 (coding exon 7) of the CACNB2 gene. This alteration results from a C to G substitution at nucleotide position 694, causing the leucine (L) at amino acid position 232 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |