ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.7611G>C (p.Glu2537Asp) (rs199519673)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497662 SCV000589898 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The E2509D variant has not been reported in one patient with keratoconus (Lechner et al., 2014). This variant is observed in approximately 1% alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2509D 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. In silico analysis predicts this variant likely does not alter the protein structure/function.

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