ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)

gnomAD frequency: 0.00001  dbSNP: rs749448607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003063478 SCV003456314 uncertain significance Rubinstein-Taybi syndrome 2022-09-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2415 of the CREBBP protein (p.Pro2415Ser). This variant is present in population databases (rs749448607, gnomAD 0.01%). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CREBBP protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV005019627 SCV005645810 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2024-05-22 criteria provided, single submitter clinical testing

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