Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812010 | SCV000952308 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer | 2018-11-08 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 17 to 22 of the EP300 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. 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. |
Invitae | RCV002245683 | SCV001586930 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal carcinoma | 2021-08-31 | criteria provided, single submitter | clinical testing |