ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)

gnomAD frequency: 0.00061  dbSNP: rs146490788
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000768199 SCV000479547 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 RCV000762542 SCV000576542 uncertain significance not provided 2021-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32084423)
CeGaT Center for Human Genetics Tuebingen RCV000762542 SCV000892872 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768199 SCV000898650 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-03-30 criteria provided, single submitter clinical testing DOCK8 NM_203447 exon 5 p.Ser165Leu (c.494C>T): This variant has not been reported in the literature but is present in 0.2% (28/10150) of Ashkenazi Jewish alleles, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs146490788). This variant is present in ClinVar (Variation ID:366541). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV003595938 SCV000932479 likely benign Autosomal recessive hyper-IgE syndrome 2024-01-28 criteria provided, single submitter clinical testing
New York Genome Center RCV000768199 SCV001622930 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2020-07-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000762542 SCV001927889 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000762542 SCV001967714 likely benign not provided no assertion criteria provided clinical testing

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