ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)

gnomAD frequency: 0.00001  dbSNP: rs1215789317
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 RCV001209499 SCV001380936 uncertain significance Bethlem myopathy 1 2019-08-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with COL6A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 3139 of the COL6A3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL6A3 protein.

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.