ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) (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 2 2016-07-01 criteria provided, single submitter research
GeneDx RCV000369937 SCV000330598 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing The R1055X variant in the EP300 gene has been reported previously in an individual with RTS; however parental segregation studies were not performed (Lopez et al., 2018). The The R1055X variant has been observed as a de novo variant with confirmed parentage in multiple patients with neurodevelopmental disorders previously tested at GeneDx. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1055X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1055X as a pathogenic variant.
Genomic Medicine Lab, University of California San Francisco RCV000490768 SCV001167575 pathogenic Rubinstein-Taybi syndrome 2 2018-05-24 criteria provided, single submitter clinical testing

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