Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000701438 | SCV000830239 | uncertain significance | DOCK2 deficiency | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 96 of the DOCK2 protein (p.Trp96Arg). This variant is present in population databases (rs370949354, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 578432). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Blueprint Genetics | RCV000788232 | SCV000927275 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000701438 | SCV002788136 | uncertain significance | DOCK2 deficiency | 2022-04-18 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002533621 | SCV003745791 | uncertain significance | Inborn genetic diseases | 2021-08-13 | criteria provided, single submitter | clinical testing | The c.286T>C (p.W96R) alteration is located in exon 5 (coding exon 5) of the DOCK2 gene. This alteration results from a T to C substitution at nucleotide position 286, causing the tryptophan (W) at amino acid position 96 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |