ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2744G>A (p.Arg915His)

gnomAD frequency: 0.00003  dbSNP: rs748820220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003638723 SCV001098544 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259021 SCV003945075 likely benign Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004740515 SCV005352876 likely benign EP300-related disorder 2022-04-13 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).

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