ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3010C>T (p.Arg1004Trp)

gnomAD frequency: 0.00011  dbSNP: rs369178263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693883 SCV000822305 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1004 of the DOCK8 protein (p.Arg1004Trp). This variant is present in population databases (rs369178263, gnomAD 0.03%). 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: 572491). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000693883 SCV002512722 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-03-26 criteria provided, single submitter clinical testing ACMG classification criteria: BP4

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