ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.48C>T (p.Gly16=)

dbSNP: rs1450404169
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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 RCV001230473 SCV001402954 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2020-09-09 criteria provided, single submitter clinical testing This sequence change affects codon 16 of the CACNA1H mRNA. It is a 'silent' change, meaning that it does not 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 insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CACNA1H-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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