ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu)

gnomAD frequency: 0.00001  dbSNP: rs536269517
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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 RCV001890624 SCV002150959 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-06-13 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. 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. This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs536269517, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1496 of the CACNA1H protein (p.Ser1496Leu).
Fulgent Genetics, Fulgent Genetics RCV002482650 SCV002781649 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-19 criteria provided, single submitter clinical testing

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