ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1757G>T (p.Arg586Leu)

dbSNP: rs747168096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001872221 SCV002124328 uncertain significance Brugada syndrome 4 2021-09-09 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 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"). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is present in population databases (rs747168096, ExAC 0.001%). This sequence change replaces arginine with leucine at codon 532 of the CACNB2 protein (p.Arg532Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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