ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.763C>A (p.Pro255Thr)

gnomAD frequency: 0.00014  dbSNP: rs754843805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819619 SCV002072424 uncertain significance not specified 2019-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869703 SCV002316343 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 255 of the DOCK8 protein (p.Pro255Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs754843805, ExAC 0.2%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. 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.

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