ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4634T>C (p.Phe1545Ser)

dbSNP: rs2141352066
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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 RCV002050082 SCV002110543 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-10-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. 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. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 1545 of the CACNA1H protein (p.Phe1545Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.

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