ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)

dbSNP: rs2149373593
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 RCV001982626 SCV002222711 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2246Leufs*22) in the COL12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL12A1 are known to be pathogenic (PMID: 24334604, 28973083). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is not present in population databases (gnomAD 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.