ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3718T>G (p.Tyr1240Asp)

gnomAD frequency: 0.00004  dbSNP: rs536928333
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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 RCV001049735 SCV001213803 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1240 of the DOCK8 protein (p.Tyr1240Asp). This variant is present in population databases (rs536928333, 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: 846434). 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.

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