ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)

dbSNP: rs1057518844
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415361 SCV000492717 likely pathogenic Thumb deformity; Glaucoma 2015-12-03 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198296 SCV001369180 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. This variant arose de novo in at least one reported proband.
Labcorp Genetics (formerly Invitae), Labcorp RCV005090685 SCV005756475 pathogenic Rubinstein-Taybi syndrome 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1233 of the CREBBP protein (p.Arg1233Lys). This variant also falls at the last nucleotide of exon 19, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of CREBBP-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 374025). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). For these reasons, this variant has been classified as Pathogenic.

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