ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.186G>T (p.Glu62Asp) (rs770775791)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521538 SCV000618224 uncertain significance not specified 2017-10-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The E62D variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). However, the E62D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species, and aspartic acid (D) is the wild-type amino acid at this position in at least one species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function.

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