ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) (rs201746779)

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
Illumina Clinical Services Laboratory,Illumina RCV000299122 SCV000470629 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354008 SCV000470630 likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529195 SCV000627340 uncertain significance Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1211 of the COL1A2 protein (p.Ile1211Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs201746779, ExAC 0.009%). This variant has not been reported in the literature in individuals with a COL1A2-related disease. ClinVar contains an entry for this variant (Variation ID: 360970). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on COL1A2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.