ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10762G>A (p.Gly3588Arg) (rs750481489)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522370 SCV000620042 uncertain significance not specified 2017-08-15 criteria provided, single submitter clinical testing The G3560R variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G3560R variant is observed in 6/16598 (0.036%) alleles in the ExAC dataset (Lek et al., 2016). The G3560R 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 G3560R as a variant of uncertain significance.

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