ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.908C>T (p.Ala303Val)

gnomAD frequency: 0.00001  dbSNP: rs1444302148
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054108 SCV001218404 uncertain significance Brugada syndrome 4 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 249 of the CACNB2 protein (p.Ala249Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. 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. 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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