ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)

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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 RCV002466801 SCV002761476 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2020-10-18 criteria provided, single submitter clinical testing The CREBBP c.1776G>C variant is classified as VUS (PM2, PP2, PP3) The CREBBP c.1776G>C variant is a single nucleotide change in exon 8 of 31 of the CREBBP gene, which is predicted to change the amino acid tryptophan at position 592 in the protein to cysteine. This variant is absent from population databases (PM2). Absent in gnomAD This is a missense variant in a constrained gene where missense variants are a common mechanism of disease and benign variation is rare (PP2). Computational predictions support a deleterious effect on the gene or gene product (PP3).

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