ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln)

gnomAD frequency: 0.00002  dbSNP: rs144461906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542174 SCV000647070 uncertain significance Brugada syndrome 4 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 108 of the CACNB2 protein (p.Arg108Gln). This variant is present in population databases (rs144461906, gnomAD 0.006%). 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: 469645). 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 expected to disrupt CACNB2 protein function with a positive 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 RCV000619491 SCV000736016 uncertain significance Cardiovascular phenotype 2022-01-25 criteria provided, single submitter clinical testing The p.R108Q variant (also known as c.323G>A), located in coding exon 4 of the CACNB2 gene, results from a G to A substitution at nucleotide position 323. The arginine at codon 108 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV000542174 SCV002813354 uncertain significance Brugada syndrome 4 2021-10-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480679 SCV004225219 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing BS1

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