ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.2309C>T (p.Pro770Leu) (rs1425767356)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521463 SCV000621885 uncertain significance not specified 2017-10-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The P770L variant has not been published as pathogenic or been reported as benign to our knowledge. The P770L variant is not observed in large population cohorts (Lek et al., 2016). The P770L 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; leucine is tolerated at this position in two lower species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Lastly, a different missense change affecting the same residue (P770S) has been reported previously at GeneDx; however, its clinical significance in unknown.

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