ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met)

dbSNP: rs147670858
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
Invitae RCV001055223 SCV001219601 uncertain significance Bethlem myopathy 1 2022-11-08 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of COL6A2-related conditions (Invitae). This variant is present in population databases (rs147670858, gnomAD 0.07%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 952 of the COL6A2 protein (p.Thr952Met). ClinVar contains an entry for this variant (Variation ID: 850936). 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 expected to disrupt COL6A2 protein function.

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.