ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.1790C>T (p.Ala597Val)

gnomAD frequency: 0.07826  dbSNP: rs17673268
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150509 SCV000168204 benign not specified 2014-04-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150509 SCV000197695 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala597Val in exon 15 of DOCK8: This variant is not expected to have clinical sig nificance because it has been identified in 10.6% (912/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs17673268).
PreventionGenetics, part of Exact Sciences RCV000150509 SCV000317168 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268489 SCV000480126 benign 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 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 RCV003761752 SCV001729582 benign Autosomal recessive hyper-IgE syndrome 2024-02-01 criteria provided, single submitter clinical testing

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