ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)

gnomAD frequency: 0.00001  dbSNP: rs1263587165
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
Invitae RCV001231394 SCV001403914 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-10-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2602 of the COL12A1 protein (p.Arg2602Gly). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL12A1 protein function. ClinVar contains an entry for this variant (Variation ID: 958263).
Revvity Omics, Revvity Omics RCV003145441 SCV003833367 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing

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.