ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1516C>T (p.Arg506Cys)

gnomAD frequency: 0.00004  dbSNP: rs111250176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557766 SCV000647060 uncertain significance Brugada syndrome 4 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 452 of the CACNB2 protein (p.Arg452Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs111250176, ExAC 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: 299563). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000557766 SCV002816321 uncertain significance Brugada syndrome 4 2021-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992169 SCV005548176 uncertain significance Cardiovascular phenotype 2024-11-19 criteria provided, single submitter clinical testing The p.R452C variant (also known as c.1354C>T), located in coding exon 13 of the CACNB2 gene, results from a C to T substitution at nucleotide position 1354. The arginine at codon 452 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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