ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)

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
Revvity Omics, Revvity RCV003145137 SCV003833315 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003340663 SCV004047632 uncertain significance Bethlem myopathy 2 criteria provided, single submitter clinical testing The c.2594C>G (p.Thr865Arg) missense variant in COL12A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr865Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Thr at position 865 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. This variant has not been reported to the ClinVar database. The amino acid change p.Thr865Arg in COL12A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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.