ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)

dbSNP: rs587783507
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago 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, Rady Children's Hospital San Diego 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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 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, Salisbury District Hospital RCV000195029 SCV000999481 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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