ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1865A>G (p.Asn622Ser)

gnomAD frequency: 0.00006  dbSNP: rs766901544
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
Mendelics RCV000988134 SCV001137733 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003595649 SCV001399411 uncertain significance Autosomal recessive hyper-IgE syndrome 2020-11-11 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 DOCK8-related conditions. This variant is present in population databases (rs766901544, ExAC 0.06%). This sequence change replaces asparagine with serine at codon 622 of the DOCK8 protein (p.Asn622Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine.

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.