ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)

gnomAD frequency: 0.00070  dbSNP: rs146242251
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514630 SCV001091513 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001537538 SCV001754431 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498560 SCV002805158 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2021-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925181 SCV004746181 benign EP300-related condition 2023-11-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000120734 SCV000084897 not provided not specified 2013-09-19 no assertion provided reference population

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