ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)

gnomAD frequency: 0.00006  dbSNP: rs727504458
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155445 SCV000205136 uncertain significance not specified 2013-04-05 criteria provided, single submitter clinical testing The Arg1569Cys variant in COL11A2 has not been reported in affected individuals or in large population studies. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Arg156 9Cys variant may impact the protein, though this information is not predictive e nough to determine pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty.
GeneDx RCV000766673 SCV000581864 uncertain significance not provided 2024-04-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000766673 SCV001506690 benign not provided 2023-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516131 SCV003540116 uncertain significance Inborn genetic diseases 2022-08-30 criteria provided, single submitter clinical testing The c.4705C>T (p.R1569C) alteration is located in exon 63 (coding exon 63) of the COL11A2 gene. This alteration results from a C to T substitution at nucleotide position 4705, causing the arginine (R) at amino acid position 1569 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.