ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5296_5297insCCCAC (p.Glu1766fs)

dbSNP: rs2151311901
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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 RCV001939522 SCV002235729 pathogenic Rubinstein-Taybi syndrome 2021-01-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CREBBP-related conditions. This sequence change creates a premature translational stop signal (p.Glu1766Alafs*7) in the CREBBP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 677 amino acid(s) of the CREBBP protein. This variant is not present in population databases (ExAC no frequency). 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. For these reasons, this variant has been classified as Pathogenic.

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