ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5324A>G (p.Asp1775Gly)

gnomAD frequency: 0.00034  dbSNP: rs58570833
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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 RCV001041374 SCV001204985 uncertain significance DOCK2 deficiency 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1775 of the DOCK2 protein (p.Asp1775Gly). This variant is present in population databases (rs58570833, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 839585). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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