ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1739G>A (p.Arg580Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005079250 SCV005724684 likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 580 of the EP300 protein (p.Arg580Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with EP300-related conditions (external communications). In at least one individual the variant was observed to be de novo. 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 expected to disrupt EP300 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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