ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8393_8415+5del

dbSNP: rs2149344192
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 RCV001969630 SCV002265120 likely pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-05-03 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 56 (c.8392_8415+5delinsA) of the COL12A1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with COL12A1-related conditions. 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. 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.

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.