ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.*9_*10insTTTTGTGTTTTTTTTTTTTTTTTTTTTGAAGTCTTGTATAACTAACAGCATCAGTTTTGCCC (p.Ter661=)

dbSNP: rs2133338573
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
Invitae RCV002048770 SCV002313221 uncertain significance Brugada syndrome 4 2021-10-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant occurs in a non-coding region of the CACNB2 gene. It does not change the encoded amino acid sequence of the CACNB2 protein. This variant has not been reported in the literature in individuals affected with CACNB2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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.