ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)

dbSNP: rs1596466547
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818939 SCV000959577 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2018-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1641 of the CACNA1H protein (p.Gln1641Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CACNA1H-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GeneDx RCV001776036 SCV002013463 uncertain significance not provided 2019-05-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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