ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003985962 SCV004801775 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a frameshift p.Arg1091ThrfsTer37 in the CREBBP gene. The variant was observed in heterozygous state in an individual affected with agenesia of corpus callosum, megacytis, neonatal seizures, and dysmorphic features. Loss-of-function variants are reported in patients with Rubinstein-Taybi syndrome 1, 180849. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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