ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4287-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002810649 SCV003209467 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-05-29 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 26486927). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 26 of the EP300 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420).

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