ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.1060A>G (p.Lys354Glu)

gnomAD frequency: 0.00001  dbSNP: rs765892068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520399 SCV000618793 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing The K354E variant in the WDR11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K354E variant is observed in 1/66738 (0.0014%) alleles from individuals of non-Finnish European background, in the ExAC dataset (Lek et al., 2016). The K354E 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 within the WD 3 repeat domain, at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K354E as a variant of uncertain significance.

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