Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003762973 | SCV001200021 | uncertain significance | Autosomal recessive hyper-IgE syndrome | 2022-02-05 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1423 of the DOCK8 protein (p.Ala1423Gly). This variant is present in population databases (rs750589703, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 835701). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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. |
Baylor Genetics | RCV001036646 | SCV001524226 | uncertain significance | Combined immunodeficiency due to DOCK8 deficiency | 2019-11-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Revvity Omics, |
RCV001036646 | SCV003832139 | uncertain significance | Combined immunodeficiency due to DOCK8 deficiency | 2022-11-29 | criteria provided, single submitter | clinical testing |