ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3031G>C (p.Glu1011Gln)

dbSNP: rs775368605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003638675 SCV004466394 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-03-27 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: 441039). This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is present in population databases (rs775368605, gnomAD 0.004%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1011 of the EP300 protein (p.Glu1011Gln).
GenomeConnect, ClinGen RCV000509248 SCV000607113 not provided Developmental and epileptic encephalopathy, 18 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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