ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.472del (p.Gln158fs)

dbSNP: rs1555496581
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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 RCV002231252 SCV000629370 pathogenic Rubinstein-Taybi syndrome 2017-02-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in CREBBP are known to be pathogenic (PMID: 17052327, 18792986). This sequence change deletes 1 nucleotide from exon 2 of the CREBBP mRNA (c.472delC), causing a frameshift at codon 158. This creates a premature translational stop signal (p.Gln158Lysfs*20) and is expected to result in an absent or disrupted protein product.

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