ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.745+2T>C

dbSNP: rs1798979994
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001237427 SCV001410186 pathogenic Cerebral cavernous malformation 2 2019-07-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the CCM2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CCM2 are known to be pathogenic (PMID: 2468908, 14624391, 17160895, 18300272). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of this splice site has been observed in individuals affected with cerebral cavernous malformations (Invitae). This variant is not present in population databases (ExAC no frequency).

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.