ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2322del (p.Asn774fs)

dbSNP: rs1596895545
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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 RCV000815586 SCV000956047 pathogenic Rubinstein-Taybi syndrome 2018-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn774Lysfs*2) 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 disease. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). For these reasons, this variant has been classified as Pathogenic.

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