ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.992C>A (p.Ser331Tyr)

dbSNP: rs755958778
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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 RCV001225212 SCV001397453 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2019-07-27 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 331 of the DOCK8 protein (p.Ser331Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOCK8-related conditions. 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 C15"). 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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