ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3934C>T (p.Arg1312Ter) (rs1555911075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657651 SCV000779398 pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The R1312X variant in the EP300 gene has been reported previously (as R1311X in some sections of the publication due to apparent typos) in an individual with Rubinstein-Taybi syndrome (Negri et al., 2015). RNA analysis suggests that this variant causes loss of normal protein function through nonsense-mediated mRNA decay (Negri et al., 2015). The R1312X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R1312X as a pathogenic variant.

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