ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.523G>A (p.Ala175Thr) (rs1085307628)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489015 SCV000576892 uncertain significance not specified 2017-04-17 criteria provided, single submitter clinical testing The A175T variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A175T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A175T 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. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, we interpret A175T as a variant of uncertain significance.

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