ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.4325A>G (p.Asp1442Gly) (rs886041286)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850544 SCV000992755 likely pathogenic Rubinstein-Taybi syndrome 1 2017-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000334678 SCV000329633 pathogenic not provided 2017-12-06 criteria provided, single submitter clinical testing The D1480G pathogenic variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The D1480G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D1480G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. 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. Missense variants in nearby residues (Y1482D, Y1482C, P1475T) have been reported in the Human Gene Mutation Database in association with Rubinstein-Taybi syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret D1480G as a pathogenic variant.

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