ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)

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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 RCV003806945 SCV004594374 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1881 of the CACNA1H protein (p.Glu1881Lys). This variant is present in population databases (rs781249124, gnomAD 0.005%). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CACNA1H protein function. Experimental studies have shown that this missense change does not substantially affect CACNA1H function (PMID: 33478561). 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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