ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)

dbSNP: rs1596428768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797798 SCV000937379 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-02-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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 leucine with arginine at codon 845 of the CACNA1H protein (p.Leu845Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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