ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His)

gnomAD frequency: 0.00001  dbSNP: rs774569737
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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 RCV001935157 SCV002176689 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-05-05 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is present in population databases (rs774569737, ExAC 0.009%). This sequence change replaces arginine with histidine at codon 1585 of the CACNA1H protein (p.Arg1585His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.

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