Submissions for variant NM_203447.4(DOCK8):c.5433G>A (p.Glu1811=)

gnomAD frequency: 0.75495  dbSNP: rs1887957

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155535	SCV000205234	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Glu1811Glu in exon 42 of DOCK8: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 39.9% (1756/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1887957).
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	RCV000210054	SCV000257465	benign	Combined immunodeficiency due to DOCK8 deficiency	2015-08-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000155535	SCV000317178	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000210054	SCV000480335	benign	Combined immunodeficiency due to DOCK8 deficiency	2018-01-12	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV003761799	SCV001727204	benign	Autosomal recessive hyper-IgE syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000210054	SCV001763154	benign	Combined immunodeficiency due to DOCK8 deficiency	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001675645	SCV001892068	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000155535	SCV004101867	benign	not specified	2023-11-12	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 96. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000155535	SCV001744699	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000155535	SCV001931101	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001675645	SCV002074630	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.