ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3358C>G (p.Gln1120Glu)

gnomAD frequency: 0.00001  dbSNP: rs772725332
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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 RCV001338719 SCV001532405 uncertain significance DOCK2 deficiency 2020-08-23 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with DOCK2-related conditions. This variant is present in population databases (rs772725332, ExAC 0.002%). This sequence change replaces glutamine with glutamic acid at codon 1120 of the DOCK2 protein (p.Gln1120Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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