ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)

dbSNP: rs1596421279
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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 RCV000816118 SCV000956610 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2018-10-29 criteria provided, single submitter clinical testing 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 tryptophan with leucine at codon 774 of the CACNA1H protein (p.Trp774Leu). The tryptophan residue is weakly conserved and there is a small physicochemical difference between tryptophan and leucine. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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