Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003034403 | SCV003324868 | uncertain significance | Brugada syndrome 4 | 2022-07-23 | 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 tolerated. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 535 of the CACNB2 protein (p.Asn535Lys). |
| Ambry Genetics | RCV004068661 | SCV004089919 | uncertain significance | Cardiovascular phenotype | 2023-08-14 | criteria provided, single submitter | clinical testing | The c.1605C>G (p.N535K) alteration is located in exon 13 (coding exon 13) of the CACNB2 gene. This alteration results from a C to G substitution at nucleotide position 1605, causing the asparagine (N) at amino acid position 535 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |