Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195029 | SCV000247114 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Rady Children's Institute for Genomic Medicine, |
RCV001731511 | SCV001984779 | pathogenic | CREBBP-Related Disorders | criteria provided, single submitter | clinical testing | This frameshift variant is found in the last exon of CREBBP and it is therefore predicted to escape nonsense-mediated mRNA decay (NMD). However, frameshift variants located downstream of this variant have been reported as disease-causing variants in the literature (PMID: 25388907, 32827181). This variant has been previously reported as a heterozygous change in patients with Rubinstein-Taybi syndrome (PMID: 25388907, 27342041, 32827181). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.5837dup (p.Pro1947ThrfsTer19) variant is classified as Pathogenic. | |
Institute of Human Genetics, |
RCV000195029 | SCV002822908 | likely pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | criteria provided, single submitter | clinical testing | ||
Institute of Immunology and Genetics Kaiserslautern | RCV000195029 | SCV004363642 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2024-02-01 | criteria provided, single submitter | clinical testing | ACMG Criteria: PP5, PM2, PS2, PVS1; Variant was found in heterozygous state |
Wessex Regional Genetics Laboratory, |
RCV000195029 | SCV000999481 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2019-11-05 | no assertion criteria provided | clinical testing |