ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)

dbSNP: rs2548407956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447759 SCV004175471 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2023-03-23 criteria provided, single submitter clinical testing The CREBBP c.3068del variant is classified as a PATHOGENIC variant (PVS1, PS2, PM2) The variant is a 1-base pair deletion in exon 16/31 of the CREBBP gene which results in a framshift starting with codon Glutamic acid 1023, changes this amino acid to a Glycine residue, and creates a premature STOP codon at position 16 downstream, denoted p.E1023GfsX16 (PVS1). The variant is de novo in the patient (PS2). The vairnat has not been reported in dbSNP and is absent from population databases (PM2). The variant has not been reported in ClinVar or HGMD disease databases.

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