Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003107931 | SCV002239650 | pathogenic | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2021-10-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 18-19 of the EP300 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420). This variant has not been reported in the literature in individuals affected with EP300-related conditions. For these reasons, this variant has been classified as Pathogenic. |