ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1476C>A (p.Tyr492Ter)

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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 RCV005177049 SCV005815867 pathogenic Rubinstein-Taybi syndrome 2024-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr492*) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. For these reasons, this variant has been classified as Pathogenic.

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