ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2790-24_2790-2del

dbSNP: rs767709133
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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 RCV002037137 SCV002111204 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2021-04-22 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is also known as c.2790-24_2790-2del. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 12 of the CACNA1H gene. It does not directly change the encoded amino acid sequence of the CACNA1H protein.

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