Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489152 | SCV000576729 | likely pathogenic | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | The c.5571_5578delACCAACTG variant in the EP300 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5571_5578delACCAACTG variant causes a frameshift starting with codon Glycine 1860, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Gly1860AlafsX20. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5571_5578delACCAACTG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.5571_5578delACCAACTG as a likely pathogenic variant. |