ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.7574C>T (p.Pro2525Leu) (rs756003807)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520204 SCV000621956 uncertain significance not specified 2017-11-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The P2497L variant has not been published as pathogenic or been reported as benign to our knowledge. The P2497L 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 in silico analysis predicts this variant likely does not alter the protein structure/function. The P2497L variant is observed in 3/18546 alleles (0.02%) from individuals of European (Finnish) ancestry in large population cohorts (Lek et al., 2016).

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