ClinVar Miner

Submissions for variant NC_000016.9:g.(?_3781438)_(3788947_?)del

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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 RCV003113464 SCV003793732 pathogenic Rubinstein-Taybi syndrome 2022-04-27 criteria provided, single submitter clinical testing This variant disrupts a region of the CREBBP protein in which other variant(s) (p.Thr1447Ile) have been determined to be pathogenic (PMID: 15706485; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has been observed in individual(s) with clinical features of CREBBP-related conditions (Invitae). This variant results in the deletion of exons 26-29 and part of exon 30 (c.4281-274_4927del) of the CREBBP gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). For these reasons, this variant has been classified as Pathogenic.

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