ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser)

gnomAD frequency: 0.00001  dbSNP: rs779543207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501816 SCV000594555 uncertain significance not specified 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520062 SCV000952826 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-06 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 2176 of the EP300 protein (p.Pro2176Ser). This variant is present in population databases (rs779543207, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with EP300-related conditions. ClinVar contains an entry for this variant (Variation ID: 341825). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
CeGaT Center for Human Genetics Tuebingen RCV003430871 SCV004153141 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EP300: BP4, BS2

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