ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4890+2T>C

dbSNP: rs786205495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171243 SCV000221440 likely pathogenic not provided criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003982920 SCV004800211 pathogenic CREBBP-related disorder 2024-02-26 criteria provided, single submitter clinical testing The CREBBP c.4890+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in an individual with intellectual disability and severe short stature (Table S1, Maddirevula et al 2018. PubMed ID: 29620724). This variant has not been reported in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice donor site in CREBBP are expected to be pathogenic. This variant is interpreted as pathogenic.

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