ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3508G>A (p.Ala1170Thr)

gnomAD frequency: 0.00001  dbSNP: rs749729496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222927 SCV001395050 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1170 of the DOCK8 protein (p.Ala1170Thr). This variant is present in population databases (rs749729496, gnomAD 0.006%). 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: 951087). 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.
GeneDx RCV001751430 SCV001996074 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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