ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.2347C>T (p.Arg783Cys)

dbSNP: rs1268667358
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 RCV002020784 SCV002306853 uncertain significance not provided 2021-10-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with COL9A1-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 COL9A1 protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 783 of the COL9A1 protein (p.Arg783Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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.