ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met)

gnomAD frequency: 0.00003  dbSNP: rs773952204
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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 RCV001239280 SCV001412139 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-28 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) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1H protein function. ClinVar contains an entry for this variant (Variation ID: 964949). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs773952204, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 807 of the CACNA1H protein (p.Thr807Met).

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