ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.452G>A (p.Arg151Gln) (rs149918318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000324636 SCV000479546 uncertain significance Hyper-IgE syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000413355 SCV000491074 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing The R83Q 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 and the 1000 Genomes Project Consortium report R83Q was observed in 19/8600 (0.22%) and 3/694 (0.43%) alleles from individuals of European and mixed American backgrounds, respectively, indicating it may be a rare variant in these populations. The variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species; however, in silico analysis is inconsistent in its predictions as to whether or not the variant is 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 RCV000645182 SCV000766924 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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