ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.238A>G (p.Ile80Val)

gnomAD frequency: 0.00001  dbSNP: rs201979117
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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 RCV001998508 SCV002265397 uncertain significance DOCK2 deficiency 2021-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 80 of the DOCK2 protein (p.Ile80Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs201979117, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. 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. 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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