ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2464G>T (p.Glu822Ter)

dbSNP: rs372503899
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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 RCV003772933 SCV002232413 pathogenic Autosomal recessive hyper-IgE syndrome 2021-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with DOCK8-related conditions. This variant is present in population databases (rs372503899, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Glu822*) 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).

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