ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)

dbSNP: rs1210404526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656096 SCV000598595 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Invitae RCV000656096 SCV004535487 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2001 of the EP300 protein (p.Pro2001Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of EP300-related conditions (PMID: 29706646). ClinVar contains an entry for this variant (Variation ID: 438594). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EP300 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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