ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2177C>A (p.Pro726His)

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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 RCV002796269 SCV003201852 uncertain significance Rubinstein-Taybi syndrome 2022-05-18 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. This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 726 of the CREBBP protein (p.Pro726His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. 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 CREBBP protein function.

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