ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9335G>A (p.Arg3112Gln) (rs942909542)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442351 SCV000536563 uncertain significance not specified 2017-01-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The R3084Q variant has not been published as pathogenic or been reported as benign to our knowledge. Data from control individuals was not available to assess whether this may be a common benign variant in the general population. The R3084Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species and where glutamine is the wild type in multiple species. Finally, in silico analysis suggests that this variant likely does not alter the protein structure/function.

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