ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.5828C>T (p.Thr1943Ile) (rs148368084)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000404228 SCV000480346 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000820827 SCV000961557 uncertain significance Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1943 of the DOCK8 protein (p.Thr1943Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs148368084, ExAC 0.02%). This variant has not been reported in the literature in individuals with DOCK8-related disease. ClinVar contains an entry for this variant (Variation ID: 367034). 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: "Possibly 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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