ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.912C>A (p.His304Gln)

dbSNP: rs758600946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003763878 SCV001392122 uncertain significance Autosomal recessive hyper-IgE syndrome 2019-05-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DOCK8-related conditions. This sequence change replaces histidine with glutamine at codon 304 of the DOCK8 protein (p.His304Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs758600946, ExAC 0.01%). 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: "Deleterious"; PolyPhen-2: "Benign"; 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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