ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2411A>G (p.His804Arg)

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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 RCV003590696 SCV004272560 uncertain significance DOCK2 deficiency 2023-06-25 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs774521100, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 804 of the DOCK2 protein (p.His804Arg).

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