ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)

gnomAD frequency: 0.00001  dbSNP: rs587778215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515834 SCV003275454 uncertain significance Rubinstein-Taybi syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 2319 of the CREBBP protein (p.His2319Leu). This variant is present in population databases (rs587778215, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. ClinVar contains an entry for this variant (Variation ID: 133938). 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.
PreventionGenetics, part of Exact Sciences RCV003415910 SCV004116464 uncertain significance CREBBP-related condition 2023-08-11 criteria provided, single submitter clinical testing The CREBBP c.6956A>T variant is predicted to result in the amino acid substitution p.His2319Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0046% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3778092-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000120606 SCV000084765 not provided not specified 2013-09-19 no assertion provided reference population

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