ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.1061G>A (p.Ser354Asn)

gnomAD frequency: 0.00001  dbSNP: rs1559868500
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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 RCV000698742 SCV000827424 uncertain significance Idiopathic generalized epilepsy 2018-02-12 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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. This sequence change replaces serine with asparagine at codon 354 of the CACNB4 protein (p.Ser354Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine.

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