ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.201_202del (p.His67fs)

dbSNP: rs2548546502
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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 RCV003064315 SCV003443051 pathogenic Rubinstein-Taybi syndrome 2022-03-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 19852432). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.His67Glnfs*14) 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).

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