ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1060G>A (p.Asp354Asn)

gnomAD frequency: 0.00006  dbSNP: rs188184732
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280808 SCV000336432 uncertain significance not provided 2015-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000821673 SCV000962442 benign Bethlem myopathy 1A 2025-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000280808 SCV003832479 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535311 SCV004116951 uncertain significance COL6A2-related disorder 2023-05-22 criteria provided, single submitter clinical testing The COL6A2 c.1060G>A variant is predicted to result in the amino acid substitution p.Asp354Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47537794-G-A). 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.