ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.3022C>T (p.Arg1008Trp) (rs16937932)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155531 SCV000205230 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg1008Trp in exon 25 of DOCK8: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (52/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs16937932).
Illumina Clinical Services Laboratory,Illumina RCV000373296 SCV000480257 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000766854 SCV000512849 uncertain significance not provided 2016-12-21 criteria provided, single submitter clinical testing The R940W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The NHLBI Exome Sequencing Project reports R940W was observed in 52/4,406 (1.18%) alleles from individuals of African American background and the 1000 Genomes Project Consortium reports R940W was observed in 15/1,322 (1.13%) alleles from individuals of African background, indicating it may be a rare variant in these populations. The R940W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000558381 SCV000645692 benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2017-10-19 criteria provided, single submitter clinical testing

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