ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val)

gnomAD frequency: 0.00046  dbSNP: rs151094543
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202995 SCV000258288 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000645157 SCV000480258 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001697210 SCV000532250 likely benign not provided 2018-07-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32108967)
Invitae RCV003761826 SCV000766899 benign Autosomal recessive hyper-IgE syndrome 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401098 SCV004103340 uncertain significance DOCK8-related disorder 2022-11-21 criteria provided, single submitter clinical testing The DOCK8 c.3058A>G variant is predicted to result in the amino acid substitution p.Ile1020Val. This variant was reported in the homozygous state in two individuals with DOCK8 deficiency (reported as rs151094543 in Table 1, Haskologlu et al 2020. PubMed ID: 32108967). This variant in interpreted as benign/likely benign/uncertain in ClinVar ( This variant is reported in 0.091% of alleles in individuals of South Asian descent, including two homozygotes, in gnomAD ( At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV001697210 SCV004161713 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing DOCK8: BP4

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