ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)

dbSNP: rs1287635563
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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 RCV005094082 SCV001382759 pathogenic not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln655*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 941448). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005049790 SCV005681895 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2024-06-24 criteria provided, single submitter clinical testing

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