ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter)

dbSNP: rs587779646
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
Baylor Genetics RCV000087620 SCV004040677 likely pathogenic Ehlers-Danlos syndrome, type 4 2023-06-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000087620 SCV004847594 likely pathogenic Ehlers-Danlos syndrome, type 4 2019-02-27 criteria provided, single submitter clinical testing The p.Arg1166X variant in COL3A1 has been reported in 1 individual with vascular type Ehlers Danlos syndrome (vEDS) who also carried a missense variant in COL3A1. Cultured fibroblasts from this individual showed approximately 10% production of type III procollagen compared to controls (Leistritz 2011, Pepin 2014).This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1166, which is predicted to lead to a truncated or absent protein. Loss of function of the COL3A1 gene is an established disease mechanism in autosomal dominant vEDS. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant vEDS. ACMG/AMP Criteria applied: PVS1, PM2, PS4_Supporting.
Collagen Diagnostic Laboratory, University of Washington RCV000087620 SCV000120511 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided 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.