ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.298T>C (p.Cys100Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003776703 SCV002966594 uncertain significance Autosomal recessive hyper-IgE syndrome 2022-08-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs753564662, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 100 of the DOCK8 protein (p.Cys100Arg). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.

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