ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly)

dbSNP: rs566220434
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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 RCV001863371 SCV002117164 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-05-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1H-related disease. 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glycine at codon 1382 of the CACNA1H protein (p.Ala1382Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine.

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