ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.52A>G (p.Arg18Gly) (rs200689054)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494317 SCV000581746 uncertain significance not provided 2018-11-19 criteria provided, single submitter clinical testing The R18G variant in the DOCK8 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R18G variant is observed in 60/17248 (0.348%) alleles from individuals of African background in large population cohorts, including one homozygous individual (Lek et al., 2016). The R18G 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. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R18G as a variant of uncertain significance.
Invitae RCV000494317 SCV000645712 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624829 SCV000741085 uncertain significance Inborn genetic diseases 2015-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

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