Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380506 | SCV001578588 | pathogenic | Rubinstein-Taybi syndrome | 2020-05-11 | 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 not been reported in the literature in individuals with CREBBP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro859Serfs*111) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. |
Genome |
RCV001380506 | SCV001749860 | not provided | Rubinstein-Taybi syndrome | no assertion provided | phenotyping only | Variant interpreted as Pathogenic and reported on 05-12-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |