ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2574dup (p.Pro859fs)

dbSNP: rs2141203402
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Total submissions: 2
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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.
GenomeConnect - Invitae Patient Insights Network 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.

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