ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.853T>C (p.Ser285Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003053017 SCV003447471 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003395575 SCV004120627 uncertain significance EP300-related disorder 2024-04-06 no assertion criteria provided clinical testing The EP300 c.853T>C variant is predicted to result in the amino acid substitution p.Ser285Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, which is more common than expected for a disease-causing variant in EP300. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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