Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002515843 | SCV003512517 | uncertain significance | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-05-16 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EP300 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 134044). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1205 of the EP300 protein (p.Phe1205Leu). This variant is present in population databases (rs587778255, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with EP300-related conditions. |
| ITMI | RCV000120713 | SCV000084875 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |