ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1814dup (p.Met605fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003640142 SCV004500461 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-03-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met605Ilefs*12) in the EP300 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Rubinstein-Taybi syndrome (Invitae). For these reasons, this variant has been classified as Pathogenic.

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