Submissions for variant NM_001429.4(EP300):c.952C>G (p.Pro318Ala)

gnomAD frequency: 0.00003  dbSNP: rs762647727

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203150	SCV000257891	benign	not specified	2015-03-06	criteria provided, single submitter	clinical testing
Invitae	RCV002517348	SCV001505849	benign	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001550918	SCV001771323	likely benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003417733	SCV004107880	uncertain significance	EP300-related condition	2022-11-29	criteria provided, single submitter	clinical testing	The EP300 c.952C>G variant is predicted to result in the amino acid substitution p.Pro318Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41523536-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV001550918	SCV004701583	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	EP300: BP4