ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4350+3G>A

gnomAD frequency: 0.00001  dbSNP: rs1969415717
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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 RCV001325993 SCV001517005 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-01-29 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant has not been reported in the literature in individuals with CACNA1H-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 22 of the CACNA1H gene. It does not directly change the encoded amino acid sequence of the CACNA1H protein, but it affects a nucleotide within the consensus splice site of the intron.

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