ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.4785del (p.Phe1596fs)

dbSNP: rs2145512052
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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 RCV002560534 SCV002206073 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2021-08-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe1596Leufs*2) 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).

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