ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) (rs369262825)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170804 SCV000223359 uncertain significance not provided 2013-06-18 criteria provided, single submitter clinical testing p.Gln1310His (CAA>CAT): c.3930 A>T in exon 31 of the CACNA1C gene (NM_000719.6). The Gln1310His variant in the CACNA1C gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Gln1310His results in a non-conservative amino acid substitution of a neutral, polar Glutamine with a positively charged Histidine at a position that is well conserved across species. The Gln1310His variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby residues have been reported in association with arrhythmia, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Gln1310His is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).

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.