ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5896C>T (p.Arg1966Ter) (rs886039331)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256029 SCV000321526 pathogenic not provided 2016-02-21 criteria provided, single submitter clinical testing The R2004X pathogenic variant in the CREBBP gene has been reported previously in association with Rubinstein-Taybi syndrome (Roelfsema et al., 2005; Parsley et al., 2011). This variant is predicted to cause loss of normal protein function through protein truncation. The R2004X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R2004X as a pathogenic variant.

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