ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV002282719 SCV002570111 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing
GeneDx RCV003443022 SCV004167861 pathogenic not provided 2023-04-08 criteria provided, single submitter clinical testing Reported in two unrelated patients in the published literature with features consistent with a CREBBP-related disorder (Spena et al., 2014); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26485669, 29637745, 33063428, 25388907)

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