ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr)

dbSNP: rs1268620135
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 RCV000694199 SCV000822632 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-03-17 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 572743). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 3049 of the COL12A1 protein (p.Cys3049Tyr).

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.