ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.278A>C (p.Glu93Ala)

dbSNP: rs2132536672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001864275 SCV002119965 uncertain significance Brugada syndrome 4 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 39 of the CACNB2 protein (p.Glu39Ala). ClinVar contains an entry for this variant (Variation ID: 1359220). 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 disruptive.

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