ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1532G>A (p.Arg511His)

gnomAD frequency: 0.00004  dbSNP: rs1039406883
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475457 SCV000552981 uncertain significance Brugada syndrome 4 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 457 of the CACNB2 protein (p.Arg457His). 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: 411700). 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 with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000475457 SCV002789433 uncertain significance Brugada syndrome 4 2021-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298504 SCV003993269 uncertain significance Cardiovascular phenotype 2023-03-26 criteria provided, single submitter clinical testing The p.R457H variant (also known as c.1370G>A), located in coding exon 13 of the CACNB2 gene, results from a G to A substitution at nucleotide position 1370. The arginine at codon 457 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.

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