ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)

dbSNP: rs1308182502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551350 SCV001771836 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing Identified in a patient with intellectual disability and dysmorphic facies in published literature (Scocchia et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30792901)
Labcorp Genetics (formerly Invitae), Labcorp RCV003638797 SCV004509635 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2024-10-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003638797 SCV004801610 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2017-09-01 criteria provided, single submitter clinical testing The EP300 c.2876G>T p.(Ser959Ile) missense variant has not, to our knowledge, been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000029 in the Admixed American population (version 2.1.1). Based on the limited evidence, the c.2876G>T p.(Ser959Ile) variant is classified as a variant of uncertain significance for Rubinstein-Taybi syndrome.

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