ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg)

gnomAD frequency: 0.00001  dbSNP: rs1970204449
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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 RCV001916069 SCV002179331 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1868 of the CACNA1H protein (p.Lys1868Arg). ClinVar contains an entry for this variant (Variation ID: 1409816). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002484455 SCV002793518 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-11-14 criteria provided, single submitter clinical testing

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