ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)

dbSNP: rs2052070776
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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 RCV001055503 SCV001219901 pathogenic Rubinstein-Taybi syndrome 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 851163). This premature translational stop signal has been observed in individuals with Rubinstein-Taybi syndrome (PMID: 12070251, 16359492, 18792986, 32386048). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1498*) 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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