ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del)

dbSNP: rs2123455541
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 RCV001370698 SCV001567225 pathogenic Bethlem myopathy 1A 2025-01-15 criteria provided, single submitter clinical testing This variant, c.2832_2927del, results in the deletion of 32 amino acid(s) of the COL6A2 protein (p.Phe944_Ala975del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of autosomal recessive COL6A2-related myopathy (internal data). ClinVar contains an entry for this variant (Variation ID: 1061166). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the COL6A2 protein in which other variant(s) (p.Thr948Arg) have been determined to be pathogenic (PMID: 35387801; internal data). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as 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.