ClinVar Miner

Submissions for variant NM_020812.4(DOCK6):c.1462C>T (p.Arg488Ter)

gnomAD frequency: 0.00001  dbSNP: rs369389970
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 RCV000760846 SCV000890742 pathogenic not provided 2018-12-03 criteria provided, single submitter clinical testing The R488X variant in the DOCK6 gene has been not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R488X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R488X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000760846 SCV002166887 pathogenic not provided 2021-05-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg488*) in the DOCK6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK6 are known to be pathogenic (PMID: 21820096, 25824905). This variant is present in population databases (rs369389970, ExAC 0.01%). This variant has not been reported in the literature in individuals with DOCK6-related conditions. ClinVar contains an entry for this variant (Variation ID: 620465). 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. For these reasons, this variant has been classified as Pathogenic.

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.