ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10328G>A (p.Gly3443Glu) (rs140056980)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519377 SCV000621251 uncertain significance not specified 2017-09-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The G3415E variant has been reported in one Chinese patient with keratoconus; however, this variant was also present in the control population and was ultimately excluded from analysis in this study (Yu et al., 2017). The G3415E variant is observed in 0.3-0.5% alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is not conserved across species and where glutamic acid (E) is present as the wild type in several species. In silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, the G3415E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.

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