ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.6978C>G (p.His2326Gln) (rs185282301)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497915 SCV000590488 uncertain significance not specified 2017-06-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The H2298Q variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 5/1322 (0.4%) alleles from individuals of African ancestry in the 1000 Genomes Project (1000 Genomes Consortium et al., 2015). 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. Nevertheless, the H2298Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties.

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