ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1903T>C (p.Cys635Arg)

dbSNP: rs1443093872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297423 SCV001486435 uncertain significance Brugada syndrome 4 2020-03-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 581 of the CACNB2 protein (p.Cys581Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine.

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