ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.3078G>C (p.Glu1026Asp) (rs1064794818)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479856 SCV000570004 uncertain significance not provided 2017-06-22 criteria provided, single submitter clinical testing The E1064D variant in the CREBBP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the E1064D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, and occurs at a position where amino acids with similar properties to Glutamic Acid are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We now interpret E1064D as a variant of uncertain significance.

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