ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) (rs140368756)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755494 SCV000603128 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing The c.2831C>T p.Pro944Leu variant (rs140368756), to our knowledge, is not reported in the medical literature or gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.3% (identified on 59 out of 23,816 chromosomes). The proline at position 944 is highly conserved, considering 12 species (Alamut v.2.10.0) and computational analyses of the effects of the p.Pro944Leu variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Pro944Leu variant cannot be predicted with certainty.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000508472 SCV000709249 likely benign not specified 2017-06-08 criteria provided, single submitter clinical testing
Invitae RCV000755494 SCV001052949 likely benign not provided 2020-10-27 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.