ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.5266G>A (p.Ala1756Thr) (rs371328036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000500683 SCV000621171 uncertain significance not specified 2017-09-26 criteria provided, single submitter clinical testing The A1728T variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1728T variant is observed in 1/382 (0.26%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The A1728T 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. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A1728T as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000500683 SCV000598088 uncertain significance not specified 2016-07-05 criteria provided, single submitter clinical testing

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