Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498309 | SCV000590257 | uncertain significance | not provided | 2017-06-07 | criteria provided, single submitter | clinical testing | The M165I variant in the EP300 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M165I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M165I variant is a conservative amino acid substitution, which is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M165I as a variant of uncertain significance, |