ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile)

dbSNP: rs1966873640
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001218087 SCV001389955 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2019-06-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 152 of the CACNA1H protein (p.Val152Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics, Fulgent Genetics RCV002491679 SCV002799603 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-15 criteria provided, single submitter clinical testing

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