ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)

dbSNP: rs2051906390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253321 SCV001428978 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2017-09-04 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001253321 SCV002579792 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV003223712 SCV003919422 pathogenic not provided 2023-04-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27311832)

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