ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys)

gnomAD frequency: 0.00001  dbSNP: rs777159526
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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 RCV001346853 SCV001541088 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-03-18 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is present in population databases (rs777159526, ExAC 0.03%). This sequence change replaces arginine with cysteine at codon 1580 of the CACNA1H protein (p.Arg1580Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.
Fulgent Genetics, Fulgent Genetics RCV002499695 SCV002806797 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-27 criteria provided, single submitter clinical testing

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