ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5084G>C (p.Gly1695Ala)

dbSNP: rs1969920469
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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 RCV001359202 SCV001555065 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-04-01 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 (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 not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 1695 of the CACNA1H protein (p.Gly1695Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.

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