ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)

dbSNP: rs199817036
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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 RCV001884465 SCV002155181 pathogenic Rubinstein-Taybi syndrome 2021-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt CREBBP protein function. This missense change has been observed in individual(s) with Rubinstein-Taybi syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1494 of the CREBBP protein (p.Pro1494Ser).

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