ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.7466G>A (p.Arg2489Gln) (rs547492890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418433 SCV000535965 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing The R2461Q variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Sufficient data from control individuals in the NHLBI Exome Sequencing Project and Exome Aggregation Consortium data sets were not available to assess whether the R2461Q variant may be a common benign variant in the general population. The R2461Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs 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 R2461Q as a variant of uncertain significance.

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