ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.521del (p.Gly174fs)

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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 RCV002819163 SCV003196733 pathogenic Rubinstein-Taybi syndrome 2023-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly174Valfs*4) in the CREBBP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1994881).

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