ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4760-1G>T

dbSNP: rs1173893014
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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 RCV001980773 SCV002284184 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-20 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 25 of the CACNA1H gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA1H cause disease. This variant is not present in population databases (gnomAD no frequency). 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: 1492199). 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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