ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.799A>T (p.Met267Leu)

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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 RCV002618214 SCV002962136 uncertain significance Rubinstein-Taybi syndrome 2022-06-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 267 of the CREBBP protein (p.Met267Leu). 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.

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