Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791751 | SCV000931012 | pathogenic | Rubinstein-Taybi syndrome | 2018-12-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant has been observed in an individual with clinical features of Rubinstein-Taybi syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg669*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. |