ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4943C>A (p.Pro1648His)

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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 RCV003829862 SCV004629045 uncertain significance Rubinstein-Taybi syndrome 2023-06-15 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) 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. This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1648 of the CREBBP protein (p.Pro1648His).
Ambry Genetics RCV004981067 SCV005562765 uncertain significance Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing The c.4943C>A (p.P1648H) alteration is located in exon 30 (coding exon 30) of the CREBBP gene. This alteration results from a C to A substitution at nucleotide position 4943, causing the proline (P) at amino acid position 1648 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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