ClinVar Miner

Submissions for variant NC_000016.9:g.(?_3711968)_(3781958_?)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 RCV001953868 SCV002246453 pathogenic Rubinstein-Taybi syndrome 2021-04-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the CREBBP protein. Other variant(s) that disrupt this region (p.Arg2004*) have been determined to be pathogenic (PMID: 15706485, 21932317, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. A similar deletion has been observed in individual(s) with Rubinstein-Taybi syndrome (PMID: 32594341, 32827181). This variant is a gross deletion of the genomic region encompassing exon(s) 29-31 of the CREBBP gene. The 5' boundary is likely confined to intron 28. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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