ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp)

dbSNP: rs1371342942
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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 RCV001348131 SCV001542419 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-10-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1H-related conditions. 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glutamic acid with aspartic acid at codon 45 of the CACNA1H protein (p.Glu45Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid.

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