ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro)

gnomAD frequency: 0.07052  dbSNP: rs34908836
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000155536 SCV000168222 benign not specified 2014-04-28 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 RCV000155536 SCV000205235 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala1970Pro in exon 45 of DOCK8: This variant is not expected to have clinical si gnificance because it has been identified in 13.3% (584/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs34908836).
Illumina Laboratory Services, Illumina RCV000353234 SCV000480348 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 RCV003761769 SCV001720221 benign Autosomal recessive hyper-IgE syndrome 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155536 SCV002051055 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing

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