ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter)

dbSNP: rs886041830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) RCV000490768 SCV000297726 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2016-07-01 criteria provided, single submitter research
GeneDx RCV000369937 SCV000330598 pathogenic not provided 2021-06-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29743117, 29506490, 33043588, 27535533)
Genomic Medicine Lab, University of California San Francisco RCV000490768 SCV001167575 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2018-05-24 criteria provided, single submitter clinical testing

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