ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2339+5C>A

dbSNP: rs554086967
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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 RCV001364639 SCV001560797 uncertain significance Long QT syndrome 2021-02-25 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CACNA1C-related conditions. This variant is present in population databases (rs554086967, ExAC 0.01%). This sequence change falls in intron 16 of the CACNA1C gene. It does not directly change the encoded amino acid sequence of the CACNA1C protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV002456562 SCV002737688 uncertain significance Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing The c.2339+5C>A intronic variant results from a C to A substitution 5 nucleotides after coding exon 16 in the CACNA1C gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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