ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1426T>C (p.Tyr476His)

gnomAD frequency: 0.00005  dbSNP: rs769211157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653067 SCV000774941 uncertain significance DOCK2 deficiency 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 476 of the DOCK2 protein (p.Tyr476His). This variant is present in population databases (rs769211157, gnomAD 0.01%). 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: 542607). 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 disruptive. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000653067 SCV001441027 uncertain significance DOCK2 deficiency 2019-01-01 criteria provided, single submitter clinical testing

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