ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln)

dbSNP: rs202220375
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000171623 SCV000050657 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
AiLife Diagnostics, AiLife Diagnostics RCV000171623 SCV002501911 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing
Invitae RCV003621509 SCV004511603 uncertain significance Brugada syndrome 4 2023-09-10 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 66 of the CACNB2 protein (p.Arg66Gln). This variant is present in population databases (rs202220375, gnomAD 0.003%). 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: 191431). 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. 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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