ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5553dup (p.Pro1852fs) (rs1555471336)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627646 SCV000748646 pathogenic not provided 2018-05-04 criteria provided, single submitter clinical testing The c.5667dupG variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.5667dupG variant causes a frameshift starting with codon Proline 1890, changes this amino acid to an Alanine residue, and creates a premature Stop codon at position 76 of the new reading frame, denoted p.Pro1890AlafsX76. This variant is predicted to cause loss of normal protein function through protein truncation. The c.5667dupG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.5667dupG as a pathogenic variant.

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