ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.907A>G (p.Met303Val)

dbSNP: rs1567331335
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762185 SCV000892454 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV002533895 SCV003270597 uncertain significance Rubinstein-Taybi syndrome 2022-10-10 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 303 of the CREBBP protein (p.Met303Val). This variant is not present in population databases (gnomAD no frequency). 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: 624078). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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