ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) (rs142821143)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481031 SCV000573305 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing The R261C variant in the DOK7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R261C variant is observed in 20/16414 (0.12%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The R261C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R261C as a variant of uncertain significance.
Invitae RCV000481031 SCV000640969 benign not provided 2018-11-27 criteria provided, single submitter clinical testing

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.