ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.809T>C (p.Val270Ala)

gnomAD frequency: 0.00001  dbSNP: rs1578499181
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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 RCV000816094 SCV000956584 uncertain significance Idiopathic generalized epilepsy 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 270 of the CACNB4 protein (p.Val270Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNB4-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; 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.

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