ClinVar Miner

Submissions for variant NC_000016.9:g.(?_3900278)_(3901030_?)del

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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 RCV001385961 SCV001586002 pathogenic Rubinstein-Taybi syndrome 2021-10-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individuals with Rubinstein–Taybi Syndrome (PMID: 14974086, 20583168). This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the CREBBP gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and 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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