Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003763800 | SCV001234421 | uncertain significance | Autosomal recessive hyper-IgE syndrome | 2022-10-27 | criteria provided, single submitter | clinical testing | 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 862528). This variant is present in population databases (rs780984101, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 8 of the DOCK8 protein (p.Glu8Asp). |