ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3977del (p.Ala1326fs)

dbSNP: rs1567276741
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233133 SCV000813739 pathogenic Rubinstein-Taybi syndrome 2018-01-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant has not been reported in the literature in individuals with CREBBP-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala1326Valfs*17) in the CREBBP gene. It is expected to result in an absent or disrupted protein product.

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