ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3717+4A>G

gnomAD frequency: 0.00001  dbSNP: rs1184709095
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631692 SCV000752776 uncertain significance Long QT syndrome 2022-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 28 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. This variant is present in population databases (no rsID available, gnomAD 0.006%). 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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 526999). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions.
Ambry Genetics RCV002343209 SCV002619530 uncertain significance Cardiovascular phenotype 2021-06-15 criteria provided, single submitter clinical testing The c.3717+4A>G intronic alteration consists of a A to G substitution 4 nucleotides after exon 28 of the CACNA1C gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002492956 SCV002790277 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-23 criteria provided, single submitter clinical testing

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.