ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3815G>C (p.Cys1272Ser)

dbSNP: rs1554398835
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
Invitae RCV002231020 SCV000627343 uncertain significance Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2017-06-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been reported in an individual affected with osteogenesis imperfecta (PMID: 26627451). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 1272 of the COL1A2 protein (p.Cys1272Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine.

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.