ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)

dbSNP: rs1596786167
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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 RCV000798264 SCV000937870 pathogenic Rubinstein-Taybi syndrome 2018-11-14 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CREBBP-related disease. This sequence change results in a premature translational stop signal in the CREBBP gene (p.Pro1953Serfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 490 amino acids of the CREBBP protein.

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