ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9622C>T (p.Arg3208Trp) (rs936945500)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498663 SCV000590498 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing The R3180W variant of uncertain significance in the ZNF469 gene has not been published as pathogenic or been reported as benign to our knowledge. Data from control individuals was not available to assess whether R3180W may be a common benign variant in the general population (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R3180W 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. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Finally, no pathogenic missense variants in nearby residues have been reported in the Human Gene Mutation Database (Stenson et al., 2014), indicating that this region of the gene is not known to harbor disease-causing variants.

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