ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005209274 SCV004471356 pathogenic not provided 2023-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2008*) in the DOCK8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DOCK8-related conditions.
Fulgent Genetics, Fulgent Genetics RCV005051364 SCV005679286 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2024-06-19 criteria provided, single submitter clinical testing

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