Submissions for variant NM_001429.4(EP300):c.3807-7C>T

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003525362	SCV004281146	likely benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2024-09-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003151515	SCV003839475	uncertain significance	not specified	2022-09-13	no assertion criteria provided	clinical testing	DNA sequence analysis of the EP300 gene demonstrated a sequence change in intron 22, c.3807-7C>T. This change does not appear to have been previously described in individuals with EP300-related disorders. This sequence change has been described in the gnomAD database in one individual which corresponds to a population frequency of 0.0004% (dbSNP rs1200883341). In-silico splice prediction programs provide inconclusive results for this sequence change. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.
PreventionGenetics, part of Exact Sciences	RCV004741460	SCV005356578	likely benign	EP300-related disorder	2022-04-12	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).