Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003763878 | SCV001392122 | uncertain significance | Autosomal recessive hyper-IgE syndrome | 2019-05-31 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with DOCK8-related conditions. This sequence change replaces histidine with glutamine at codon 304 of the DOCK8 protein (p.His304Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs758600946, ExAC 0.01%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |