ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Ulm RCV003237318 SCV003935867 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2022-10-19 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004741578 SCV005341773 uncertain significance CREBBP-related disorder 2024-09-09 no assertion criteria provided clinical testing The CREBBP c.4571A>G variant is predicted to result in the amino acid substitution p.Lys1524Arg. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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