ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala)

gnomAD frequency: 0.00001  dbSNP: rs1348390859
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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 RCV000538752 SCV000632223 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2019-06-20 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CACNA1H-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 2163 of the CACNA1H protein (p.Gly2163Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine.

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