ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.4445A>G (p.Lys1482Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799589 SCV000939260 pathogenic Rubinstein-Taybi syndrome 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1520 of the CREBBP protein (p.Lys1520Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with Rubinstein-Taybi syndrome (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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