ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs)

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
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV004556985 SCV005045744 likely pathogenic Ehlers-Danlos syndrome, type 4 2023-11-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004556985 SCV005427305 likely pathogenic Ehlers-Danlos syndrome, type 4 2024-03-28 criteria provided, single submitter clinical testing The c.1694_1697del (p.Pro565Leufs*225) variant in COL3A1 gene, that encodes for collagen type III alpha 1 chain, creates a premature termination codon that is predicted to lead to absent or truncated protein product. This variant has not been reported in the literature for COL3A1-related conditions. Loss-of-function variants in COL3A1 gene are well known to be pathogenic and ClinGen score shows sufficient evidence of haploinsufficiency of this gene (PMID: 11577371, 24922459, 24650746). Loss-of-function variants downstream of this variant are reported to be pathogenic in the literature (PMID: 30474650, 31141158, 22019127, 29381997, 30474650) and in ClinVar (ClinVar ID:2418894, 1458343). This variant is absent in the general population database, gnomAD. Therefore, the c.1694_1697del (p.Pro565Leufs*225) variant in the COL3A1 gene is classified 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.