ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.3665+1G>A (rs587783483)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255068 SCV000321524 pathogenic not provided 2017-02-08 criteria provided, single submitter clinical testing The c.3779+1G>A variant in the CREBBP gene has been reported previously as a de novo variant in an individual with intellectual disability, short stature, dysmorphic features, but no broad thumbs or great toes as usually seen in Rubinstein-Taybi syndrome (Dauwerse et al., 2016). This splice site variant destroys the canonical splice donor site in intron 20. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.3779+1G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3779+1G>A as a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000145739 SCV000192862 pathogenic Rubinstein-Taybi syndrome 1 2013-02-26 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000145739 SCV000265547 pathogenic Rubinstein-Taybi syndrome 1 2014-12-09 criteria provided, single submitter research

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