ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met)

gnomAD frequency: 0.00015  dbSNP: rs370975488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694963 SCV000823435 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1841 of the CACNA1H protein (p.Val1841Met). This variant is present in population databases (rs370975488, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 573317). 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 expected to disrupt CACNA1H protein function with a positive predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002493194 SCV002792154 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-10 criteria provided, single submitter clinical testing

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