ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3276+1G>C

dbSNP: rs2101406339
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272626 SCV002556513 likely pathogenic Stickler syndrome type 2 2020-07-02 criteria provided, single submitter clinical testing The COL11A1 c.3276+1G>C variant is a single nucleotide change from a guanine to a cytosine at the donor splice site of intron 42. Computational splice site prediction programs predict loss of this splice site and likely skipping of exon 42 (PVS1). This variant has not been reported in the literature. Other COL11A1 splice site variants have been reported in patients with Stickler syndrome (PMID: 27081549; PMID: 20513134). The variant has not been reported in dbSNP and is absent from population databases (PM2).This variant has not been reported in the ClinVar or HGMD disease databases.

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.