ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4133+4A>G

gnomAD frequency: 0.00124  dbSNP: rs372126168
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176481 SCV000228145 benign not specified 2014-07-22 criteria provided, single submitter clinical testing
Invitae RCV000951517 SCV001097922 likely benign Rubinstein-Taybi syndrome 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001640269 SCV001856316 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326963 SCV002627185 uncertain significance Inborn genetic diseases 2017-12-15 criteria provided, single submitter clinical testing The c.4133+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 24 in the CREBBP gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003927626 SCV004743219 benign CREBBP-related condition 2021-09-14 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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