ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1654T>C (p.Ser552Pro)

dbSNP: rs587778263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003525861 SCV004261070 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-06-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 134066). This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 552 of the EP300 protein (p.Ser552Pro).
ITMI RCV000120735 SCV000084898 not provided not specified 2013-09-19 no assertion provided reference population

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