ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.742-15T>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691417 SCV000819195 uncertain significance Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2018-04-01 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the DOCK8 gene. It does not directly change the encoded amino acid sequence of the DOCK8 protein. This variant is present in population databases (rs111627162, ExAC 0.002%). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with combined immunodeficiency (PMID: 19776401). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. An experimental study using the patient's cDNA has shown that this intronic change causes abnormal splicing (PMID: 19776401). 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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