ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1306C>T (p.Arg436Trp)

gnomAD frequency: 0.00001  dbSNP: rs775192218
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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 RCV001207686 SCV001379049 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2022-06-15 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 436 of the DOCK8 protein (p.Arg436Trp). This variant is present in population databases (rs775192218, gnomAD 0.006%). 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: 938466). 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.
Baylor Genetics RCV001207686 SCV001524222 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2019-11-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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