ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)

dbSNP: rs1384496494
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856851 SCV000999399 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526626 SCV001737056 pathogenic Corpus callosum, agenesis of criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000856851 SCV002540225 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2021-12-15 criteria provided, single submitter clinical testing The CREBBP c.1108C>T (p.Arg370Ter) nonsense variant results in the substitution of arginine at amino acid position 370 with a stop codon. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant has been reported in a heterozygous state in at least seven individuals with Rubinstein-Taybi syndrome, including in a presumed de novo state in at least two individuals (Coupry et al. 2002; Bartsch et al. 2002; Udaka et al. 2005; Bentivengna et al. 2006; Cross et al. 2020; Squeo et al. 2020). The c.1108C>T variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.1108C>T (p.Arg370Ter) variant is classified as pathogenic for Rubinstein-Taybi syndrome.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000856851 SCV003843210 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2021-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092540 SCV005838412 pathogenic Rubinstein-Taybi syndrome 2024-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg370*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 32170002, 32827181). ClinVar contains an entry for this variant (Variation ID: 694759). For these reasons, this variant has been classified as Pathogenic.

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