ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.8599G>A (p.Gly2867Ser) (rs745468033)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000518932 SCV000620819 uncertain significance not specified 2017-09-18 criteria provided, single submitter clinical testing The G2839S variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G2839S variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G2839S 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 is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G2839S as a variant of uncertain significance.

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