ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln)

dbSNP: rs1767686939
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001327776 SCV001518865 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2020-03-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with COL12A1-related conditions. This sequence change replaces proline with glutamine at codon 2971 of the COL12A1 protein (p.Pro2971Gln). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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.