ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys)

gnomAD frequency: 0.00005  dbSNP: rs377103385
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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 RCV000635073 SCV000756451 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-12-21 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1H protein function. ClinVar contains an entry for this variant (Variation ID: 529614). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs377103385, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1879 of the CACNA1H protein (p.Glu1879Lys).
Fulgent Genetics, Fulgent Genetics RCV000764019 SCV000894971 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2018-10-31 criteria provided, single submitter clinical testing

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