ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly)

dbSNP: rs773893318
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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 RCV001875311 SCV002152586 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-11-03 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 not expected to disrupt CACNA1H protein function. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 1792 of the CACNA1H protein (p.Ser1792Gly). The serine residue is weakly conserved and there is a small physicochemical difference between serine and glycine.

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