ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5398C>T (p.Arg1800Trp)

gnomAD frequency: 0.00001  dbSNP: rs368448938
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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 RCV001877175 SCV002131416 uncertain significance DOCK2 deficiency 2023-08-10 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1370461). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs368448938, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1800 of the DOCK2 protein (p.Arg1800Trp).

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