ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu)

dbSNP: rs1555520320
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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 RCV000703575 SCV000832480 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2019-07-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 1918 of the CACNA1H protein (p.Lys1918Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNA1H-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: "Deleterious"; 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.

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