ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.282-9_285del

dbSNP: rs2112308599
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 RCV001378821 SCV001576481 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-09-17 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 4 (c.282-9_285del) of the MCCC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. This variant has not been reported in the literature in individuals with MCCC2-related conditions.

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.