ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5361C>T (p.Ala1787=)

gnomAD frequency: 0.00014  dbSNP: rs200552141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002547227 SCV001098351 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000951900 SCV001871159 likely benign not provided 2020-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925948 SCV004744305 likely benign EP300-related condition 2021-11-09 criteria provided, single submitter 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).

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