ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu)

dbSNP: rs142639223
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241897 SCV001414951 uncertain significance Brugada syndrome 4 2024-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 514 of the CACNB2 protein (p.Val514Leu). This variant is present in population databases (rs142639223, 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: 967076). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV002402765 SCV002705894 uncertain significance Cardiovascular phenotype 2023-05-03 criteria provided, single submitter clinical testing The p.V514L variant (also known as c.1540G>T), located in coding exon 13 of the CACNB2 gene, results from a G to T substitution at nucleotide position 1540. The valine at codon 514 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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.

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