ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.6106del (p.Thr2035_Leu2036insTer) (rs1555471086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598901 SCV000710182 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing The c.6220delC variant in the CREBBP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.6220delC variant causes a frameshift, changing codon Leucine 2074 to a premature Stop codon, denoted p.Leu2074Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.6220delC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.6220delC as a pathogenic variant.

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