ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.2126C>T (p.Pro709Leu) (rs1017679214)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523932 SCV000621680 uncertain significance not specified 2017-10-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The P709L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The P709L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved across species and where leucine (L) is present as the wild type in several species.

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