ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV004556009 SCV005045163 likely pathogenic Marshall syndrome; Stickler syndrome type 2 2023-11-29 criteria provided, single submitter clinical testing The COL11A1 c.1951C>T (p.Arg651Ter) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant causes a premature termination codon, which is predicted to lead to nonsense mediated decay. Additionally, other variants that introduce a premature termination codon in this region are described as pathogenic in the ClinVar database (Variation IDs: 1455649, 2128713, 2131680). Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV005100829 SCV005797806 pathogenic not provided 2024-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg651*) in the COL11A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A1 are known to be pathogenic (PMID: 20513134, 21035103, 23922384, 25240749, 32427345, 32756486). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004736693 SCV005342458 likely pathogenic COL11A1-related disorder 2024-08-29 no assertion criteria provided clinical testing The COL11A1 c.1951C>T variant is predicted to result in premature protein termination (p.Arg651*). To our knowledge, this variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in COL11A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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.