ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7669-2del

dbSNP: rs764193290
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
PreventionGenetics, part of Exact Sciences RCV004551575 SCV004712028 pathogenic COL6A3-related disorder 2023-12-27 criteria provided, single submitter clinical testing The COL6A3 c.7669-2delA variant is predicted to result in a deletion affecting a canonical splice site. This variant has been reported in the compound heterozygous state in an individual with Bethlem myopathy (Table S1, Sframeli et al. 2017. PubMed ID: 28688748). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that impact the splice acceptor site are expected to be pathogenic. This variant is interpreted as pathogenic.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477801 SCV000536777 likely pathogenic Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27 2016-02-10 no assertion criteria provided research

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.