ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002727306 SCV003005784 likely benign Bethlem myopathy 1A 2022-05-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738605 SCV005363637 uncertain significance COL6A3-related disorder 2024-04-04 no assertion criteria provided clinical testing The COL6A3 c.1250C>T variant is predicted to result in the amino acid substitution p.Pro417Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.