ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3156+6G>C

gnomAD frequency: 0.00002  dbSNP: rs398123520
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079285 SCV000111155 uncertain significance not provided 2013-06-21 criteria provided, single submitter clinical testing
Invitae RCV001854400 SCV002306501 uncertain significance Long QT syndrome 2023-01-17 criteria provided, single submitter clinical testing This sequence change falls in intron 24 of the CACNA1C gene. It does not directly change the encoded amino acid sequence of the CACNA1C protein. It affects a nucleotide within 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. Variants that disrupt 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. ClinVar contains an entry for this variant (Variation ID: 93400). This variant has been observed in individual(s) with clinical features of CACNA1C-related conditions (PMID: 31130284). This variant is present in population databases (rs398123520, gnomAD 0.003%).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.