ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2960del (p.Pro987fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud RCV004794767 SCV005414512 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-11-18 criteria provided, single submitter clinical testing The variant NM_001429.4:c.2959delC (p.Pro987Glnfs*33) results in a deletion that causes a frameshift and a premature stop codon 33 amino acids downstream. This is predicted to lead to nonsense-mediated decay (NMD) or a truncated protein. According to ACMG/AMP guidelines, this variant meets the criteria for PVS1 and PM2, supporting its classification as likely pathogenic

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