ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp)

dbSNP: rs774402582
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001870858 SCV002132508 benign Long QT syndrome 2023-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359321 SCV002653736 uncertain significance Cardiovascular phenotype 2024-04-17 criteria provided, single submitter clinical testing The p.R1973W variant (also known as c.5917C>T), located in coding exon 46 of the CACNA1C gene, results from a C to T substitution at nucleotide position 5917. The arginine at codon 1973 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.