ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.2188C>T (p.Arg730Ter) (rs1057520652)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431043 SCV000516762 pathogenic not provided 2015-04-19 criteria provided, single submitter clinical testing The R768X variant in the CREBBP gene has been reported previously in association with Rubinstein-Taybi syndrome (Schorry et al., 2008). This variant is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. The R768X variant was notobserved in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretR768X as a pathogenic variant.

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