ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)

dbSNP: rs886041286
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000334678 SCV000329633 pathogenic not provided 2022-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31216405, 32827181, 12070251)
Baylor Genetics RCV000850544 SCV000992755 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2017-12-31 criteria provided, single submitter clinical testing
3billion RCV000850544 SCV002058983 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000279963, PMID:31216405, PS1_S). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.973, 3CNET: 0.99, PP3_P). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000850544 SCV000999467 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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