Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035092 | SCV001198407 | uncertain significance | Combined immunodeficiency due to DOCK8 deficiency | 2022-08-22 | 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 1579 of the DOCK8 protein (p.Ala1579Gly). This variant is present in population databases (rs145202369, gnomAD 0.1%). 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: 834411). 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. |
Ambry Genetics | RCV003160202 | SCV003866700 | uncertain significance | Inborn genetic diseases | 2023-01-10 | criteria provided, single submitter | clinical testing | The c.4736C>G (p.A1579G) alteration is located in exon 37 (coding exon 37) of the DOCK8 gene. This alteration results from a C to G substitution at nucleotide position 4736, causing the alanine (A) at amino acid position 1579 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |