ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu)

dbSNP: rs771994752
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635017 SCV000756395 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-02-09 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. ClinVar contains an entry for this variant (Variation ID: 529558). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1020 of the CACNA1H protein (p.Ala1020Glu).

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