ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)

dbSNP: rs988251457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249612 SCV001423642 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-04-16 criteria provided, single submitter clinical testing [ACMG/AMP: PS2, PM1, PM2, PP3] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is located in a mutational hotspot and/or critical and well-established functional domain [PM1], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3].
GeneDx RCV001847212 SCV002104353 pathogenic not provided 2022-03-08 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; This variant is associated with the following publications: (PMID: 30892814, 27311832, 32371413)

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