ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys)

gnomAD frequency: 0.00002  dbSNP: rs1339855749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000999612 SCV001156316 uncertain significance Sudden unexplained death 2018-03-07 criteria provided, single submitter research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband(s) identified with this variant. For further information please feel free to contact us.
Ambry Genetics RCV002391068 SCV002698997 uncertain significance Cardiovascular phenotype 2021-01-05 criteria provided, single submitter clinical testing The p.Q498K variant (also known as c.1492C>A), located in coding exon 13 of the CACNB2 gene, results from a C to A substitution at nucleotide position 1492. The glutamine at codon 498 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003769376 SCV004638548 uncertain significance Brugada syndrome 4 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 498 of the CACNB2 protein (p.Gln498Lys). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 810766). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNB2 protein function. 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.

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