ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.-204_85del (p.Met1fs)

dbSNP: rs1567386034
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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 RCV000698529 SCV000827197 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2018-04-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing first 24 nucleotides of exon 1 of the CREBBP gene (c.-1380_24del), which includes the initiator codon. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CREBBP-related disease. 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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