ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4151A>G (p.Asn1384Ser)

gnomAD frequency: 0.00012  dbSNP: rs375716929
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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 RCV000687959 SCV000815554 uncertain significance DOCK2 deficiency 2022-11-20 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1384 of the DOCK2 protein (p.Asn1384Ser). 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: 567785). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs375716929, gnomAD 0.01%).

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