Submissions for variant NM_203447.3(DOCK8):c.550G>A (p.Val184Met) (rs143461644)

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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	RCV000375532	SCV000479550	uncertain significance	Hyper-IgE syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000693678	SCV000821556	uncertain significance	Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive	2018-03-26	criteria provided, single submitter	clinical testing	This sequence change replaces valine with methionine at codon 184 of the DOCK8 protein (p.Val184Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs143461644, ExAC 0.2%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals with DOCK8-related disease. ClinVar contains an entry for this variant (Variation ID: 366544). Algorithms developed to predict the effect of missense changes on protein structure and function 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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