ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser)

gnomAD frequency: 0.00004  dbSNP: rs769175169
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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 RCV000635045 SCV000756423 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 1618 of the CACNA1H protein (p.Tyr1618Ser). This variant is present in population databases (rs769175169, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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: 529586). 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. 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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