ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147541 SCV003835827 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003594027 SCV004296377 pathogenic Rubinstein-Taybi syndrome 2022-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1880*) in the CREBBP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 563 amino acid(s) of the CREBBP protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with CREBBP-related conditions and/or Rubinstein–Taybi syndrome (PMID: 28600779, 31637876, 33502061). This variant disrupts a region of the CREBBP protein in which other variant(s) (p.Met2225Alafs*78) have been determined to be pathogenic (PMID: 32170002). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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