ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4728+4C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003816675 SCV004615067 uncertain significance Rubinstein-Taybi syndrome 2022-12-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with CREBBP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 28 of the CREBBP gene. It does not directly change the encoded amino acid sequence of the CREBBP protein. It affects a nucleotide within the consensus splice site.

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