ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.71del (p.Gly24fs)

dbSNP: rs1562881854
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757062 SCV000885150 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001051783 SCV001215961 pathogenic Cerebral cavernous malformation 2 2019-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CCM2 are known to be pathogenic (PMID: 2468908, 14624391, 17160895, 18300272). This variant has not been reported in the literature in individuals with CCM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly24Valfs*13) in the CCM2 gene. It is expected to result in an absent or disrupted protein product.

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.