ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5074T>C (p.Cys1692Arg) (rs1555912107)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521831 SCV000619183 likely pathogenic not provided 2017-07-20 criteria provided, single submitter clinical testing The C1692R variant in the EP300 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The C1692R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C1692R 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. In addition, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret C1692R as a likely pathogenic variant.

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