ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.578C>A (p.Ser193Tyr) (rs1369047197)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522655 SCV000619693 uncertain significance not specified 2017-08-01 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The S193Y 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; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S193Y 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 in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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