ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5173+9C>G

dbSNP: rs1018925405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983786 SCV002279629 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-02-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Fulgent Genetics, Fulgent Genetics RCV002486558 SCV002789568 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-04-29 criteria provided, single submitter clinical testing

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