ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3905G>C (p.Trp1302Ser)

gnomAD frequency: 0.00001  dbSNP: rs149116813
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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 RCV001978772 SCV002221344 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with serine at codon 1302 of the DOCK8 protein (p.Trp1302Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine. This variant is present in population databases (rs149116813, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. 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 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.
PreventionGenetics, part of Exact Sciences RCV003892989 SCV004714661 uncertain significance DOCK8-related disorder 2024-02-09 no assertion criteria provided clinical testing The DOCK8 c.3905G>C variant is predicted to result in the amino acid substitution p.Trp1302Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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