ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3955A>G (p.Ser1319Gly)

gnomAD frequency: 0.00001  dbSNP: rs774350496
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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 RCV001359183 SCV001555045 uncertain significance DOCK2 deficiency 2020-07-07 criteria provided, single submitter clinical testing 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This sequence change replaces serine with glycine at codon 1319 of the DOCK2 protein (p.Ser1319Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs774350496, ExAC 0.05%). This variant has not been reported in the literature in individuals 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.

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