ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4703A>C (p.Glu1568Ala)

dbSNP: rs2056742806
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280987 SCV001468371 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-03-30 criteria provided, single submitter clinical testing DOCK8 NM_203447.3 exon 37 p.Glu1568Ala (c.4703A>C):This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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