ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=)

gnomAD frequency: 0.00004  dbSNP: rs747200195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000444894 SCV000511442 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003766189 SCV004589762 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-10 criteria provided, single submitter clinical testing This sequence change affects codon 1248 of the CACNA1H mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1H protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs747200195, gnomAD 0.005%). 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: 377182). 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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