ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.2187+5G>A

dbSNP: rs2484725506
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
Revvity Omics, Revvity RCV003141677 SCV003828101 uncertain significance not provided 2022-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004725660 SCV005338978 likely pathogenic COL1A2-related disorder 2024-09-13 no assertion criteria provided clinical testing The COL1A2 c.2187+5G>A variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants affecting the canonical splice site (c.2187+1G>C, c.2187+2T>C) have been reported in individuals with osteogenesis imperfecta (Table S7, Stranneheim et al. 2021. PubMed ID: 33726816; Lee et al. 2006. PubMed ID: 16705691). At PreventionGenetics, this variant was found to be de novo in an individual with features consistent with COL1A2-related disease (Internal Data). 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.