Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000576254 | SCV000677000 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2017-07-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys1024Glyfs*63) in the EP300 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EP300-related disease. Loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420). For these reasons, this variant has been classified as Pathogenic. |