ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)

gnomAD frequency: 0.00001  dbSNP: rs762990689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008103 SCV001167852 pathogenic not provided 2021-04-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23380217, 29419892, 33225392, 33290277)
Labcorp Genetics (formerly Invitae), Labcorp RCV005093047 SCV002235789 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu284Valfs*10) 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 (rs762990689, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with DOCK8 deficiency (PMID: 23380217). This variant is also known as c.850_851delCT (p.L284fsX293). ClinVar contains an entry for this variant (Variation ID: 817037). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001784550 SCV002584914 pathogenic Combined immunodeficiency due to DOCK8 deficiency 2023-10-05 no assertion criteria provided literature only

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