ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5431-10C>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813736 SCV000954107 uncertain significance Immunodeficiency 40 2018-12-27 criteria provided, single submitter clinical testing This sequence change falls in intron 51 of the DOCK2 gene. It does not directly change the encoded amino acid sequence of the DOCK2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOCK2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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