ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3079C>A (p.Arg1027Ser) (rs1057524853)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435535 SCV000536625 uncertain significance not specified 2017-02-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The R1027S 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 the R1027S variant may be a common benign variant in the general population. The R1027S 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. In silico analysis predicts this variant probably does not alter the protein structure/function.

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