ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.472C>G (p.Leu158Val)

gnomAD frequency: 0.00001  dbSNP: rs542942121
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003763961 SCV001518590 uncertain significance Autosomal recessive hyper-IgE syndrome 2023-04-07 criteria provided, single submitter clinical testing This variant is present in population databases (rs542942121, gnomAD 0.006%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 158 of the DOCK8 protein (p.Leu158Val). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DOCK8 protein function. ClinVar contains an entry for this variant (Variation ID: 1026975).
GeneDx RCV001751635 SCV001985293 uncertain significance not provided 2020-12-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.