ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)

gnomAD frequency: 0.00001  dbSNP: rs773215003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852429 SCV000995113 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2017-08-30 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223960 SCV002503456 uncertain significance not provided 2020-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453932 SCV002617911 uncertain significance Cardiovascular phenotype 2020-09-22 criteria provided, single submitter clinical testing The p.C114Y variant (also known as c.341G>A), located in coding exon 4 of the CACNB2 gene, results from a G to A substitution at nucleotide position 341. The cysteine at codon 114 is replaced by tyrosine, an amino acid with highly dissimilar 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.
Invitae RCV003106082 SCV003782975 uncertain significance Brugada syndrome 4 2022-04-06 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 114 of the CACNB2 protein (p.Cys114Tyr). This variant is present in population databases (rs773215003, 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: 691656). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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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