ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser)

gnomAD frequency: 0.00001  dbSNP: rs774687054
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541169 SCV000632240 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2017-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 245 of the CACNA1H protein (p.Gly245Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs774687054, ExAC 0.02%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. 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.

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