ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.167A>G (p.Tyr56Cys)

gnomAD frequency: 0.00001  dbSNP: rs373301364
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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 RCV003596579 SCV000941138 uncertain significance Autosomal recessive hyper-IgE syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 56 of the DOCK8 protein (p.Tyr56Cys). This variant is present in population databases (rs373301364, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 646974). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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