ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His)

gnomAD frequency: 0.00010  dbSNP: rs200627008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635043 SCV000756421 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-05-05 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNA1H-related disease. This variant is present in population databases (rs200627008, ExAC 0.01%). This sequence change replaces arginine with histidine at codon 1580 of the CACNA1H protein (p.Arg1580His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine.
Fulgent Genetics, Fulgent Genetics RCV005010610 SCV005643034 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-04-02 criteria provided, single submitter clinical testing

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