ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.338G>A (p.Arg113His)

gnomAD frequency: 0.00001  dbSNP: rs750421267
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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 RCV000653070 SCV000774944 uncertain significance DOCK2 deficiency 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 542610). This variant is present in population databases (rs750421267, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 113 of the DOCK2 protein (p.Arg113His).

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