ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.344T>G (p.Leu115Arg)

dbSNP: rs2128747658
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 RCV001932430 SCV002132902 uncertain significance Cerebral cavernous malformation 2 2021-05-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 115 of the CCM2 protein (p.Leu115Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. 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. Experimental studies have shown that this variant affects CCM2 protein function (PMID: 25525273). This variant has been observed in individual(s) with cerebral cavernous malformation (PMID: 25525273, 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.