ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2111A>G (p.Lys704Arg)

gnomAD frequency: 0.00001  dbSNP: rs550143471
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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 RCV001205473 SCV001376733 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 704 of the DOCK8 protein (p.Lys704Arg). This variant is present in population databases (rs550143471, gnomAD 0.01%). This missense change has been observed in individual(s) with primary immunodeficiency (PMID: 27872624). This variant is also known as p.Lys636Arg. ClinVar contains an entry for this variant (Variation ID: 936638). 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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