ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2754+5G>A (rs1057518666)

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
Baylor Miraca Genetics Laboratories, RCV000414977 SCV000328741 likely pathogenic Stickler syndrome, type 2 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in COL11A1 (NM_080630.2:c.2754+5G>A) and KRIT1 (NM_194456.1:c.146_147del) in an individual with hearing loss, tics, dysmorphic features, macrocephaly, vision loss, chronic otitis media, reactive airway disease, food allergy, urticaria, eczema, and keratosis pilaris.
GeneDx RCV000489508 SCV000577410 pathogenic not provided 2017-03-30 criteria provided, single submitter clinical testing The c.2754+5G>A variant in the COL11A1 gene, using alternate nomenclature c.2755+5G>A, has been reported previously in the heterozygous state in association with Stickler syndrome (Richards et al., 2010). This variant destroys the splice donor site at intron 35, and is expected to cause abnormal gene splicing. The c.2754+5G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.2754+5G>A as a pathogenic variant.

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.