Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224110 | SCV001396288 | pathogenic | Rubinstein-Taybi syndrome | 2019-08-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed to be de novo in an individual affected with Rubinstein-Taybi syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 13 of the CREBBP gene. It does not directly change the encoded amino acid sequence of the CREBBP protein. |