ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2267+3G>A

gnomAD frequency: 0.00006  dbSNP: rs774041924
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
Blueprint Genetics RCV000788128 SCV000927137 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001296888 SCV001485865 uncertain significance DOCK2 deficiency 2020-07-24 criteria provided, single submitter clinical testing Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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. This sequence change falls in intron 22 of the DOCK2 gene. It does not directly change the encoded amino acid sequence of the DOCK2 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs774041924, ExAC 0.03%). This variant has not been reported in the literature in individuals with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 636342).

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.