ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)

dbSNP: rs1555471874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002233937 SCV000754207 pathogenic Rubinstein-Taybi syndrome 2017-12-18 criteria provided, single submitter clinical testing Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). For these reasons, this variant has been classified as Pathogenic. 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.Arg1672*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product.

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