ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)

dbSNP: rs1596418694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817069 SCV000957607 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2018-07-12 criteria provided, single submitter clinical testing 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 glycine with aspartic acid at codon 691 of the CACNA1H protein (p.Gly691Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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.
Fulgent Genetics, Fulgent Genetics RCV002495160 SCV002778211 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-23 criteria provided, single submitter clinical testing

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