ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5174-8G>A

dbSNP: rs200481928
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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 RCV001997923 SCV002250014 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-19 criteria provided, single submitter clinical testing This sequence change falls in intron 29 of the CACNA1H gene. It does not directly change the encoded amino acid sequence of the CACNA1H protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 1464303). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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