ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) (rs797045037)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191076 SCV000245468 likely pathogenic Rubinstein-Taybi syndrome 1 2013-05-16 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 20-year-old female with intellectual disability, epilepsy, anxiety. She also had a de novo variant in an epilepsy-associated gene.
GeneDx RCV000523539 SCV000616692 pathogenic not provided 2017-09-13 criteria provided, single submitter clinical testing The M1872V pathogenic variant in the CREBBP gene has been reported previously as a de novo variant in at least two individuals with intellectual disability and other features of Rubinstein-Taybi syndrome, but one of these individuals was also reported to have a de novo variant in another gene that could potentially account for the phenotype (Menke et al., 2016; Mahajan et al., 2016). The M1872V variant has also been observed as a de novo variant in a patient previously tested at GeneDx. The M1872V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The M1872V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M1872V as a pathogenic variant.
OMIM RCV000757968 SCV000886493 pathogenic Menke-Hennekam syndrome 1 2019-02-22 no assertion criteria provided literature only

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