ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)

dbSNP: rs121912869
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
GeneDx RCV000579130 SCV000680706 pathogenic not provided 2019-05-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25525159, 20179744, 8434604, 15895462, 26443184)
Invitae RCV000579130 SCV001585159 pathogenic not provided 2023-07-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 17360). This variant is also known as p.Arg9X. This premature translational stop signal has been observed in individual(s) with clinical features of Stickler syndrome (PMID: 8434604). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg209*) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744).
OMIM RCV000018904 SCV000039188 pathogenic Stickler syndrome type 1 1993-01-01 no assertion criteria provided literature only

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.