ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)

dbSNP: rs1596920501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234331 SCV001406971 pathogenic Rubinstein-Taybi syndrome 2019-08-13 criteria provided, single submitter clinical testing Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This sequence change creates a premature translational stop signal (p.Gln517*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CREBBP-related conditions. For these reasons, this variant has been classified as Pathogenic.
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856892 SCV000999408 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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