ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del)

dbSNP: rs748582978
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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 RCV001366819 SCV001563136 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-07-10 criteria provided, single submitter clinical testing This variant, c.724_726del, results in the deletion of 1 amino acid(s) of the CACNA1H protein (p.Phe242del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs748582978, ExAC 0.002%). This variant has not been reported in the literature in individuals with CACNA1H-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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