ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.799A>G (p.Met267Val)

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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 RCV003758552 SCV004447479 uncertain significance Rubinstein-Taybi syndrome 2022-11-13 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. 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 C15"). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. This variant is present in population databases (rs765652041, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 267 of the CREBBP protein (p.Met267Val).
PreventionGenetics, part of Exact Sciences RCV003948918 SCV004759512 likely benign CREBBP-related disorder 2024-09-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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