ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr)

dbSNP: rs2151383193
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823504 SCV002072994 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing The missense variant p.P1191T in CREBBP (NM_004380.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.P1191T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.P1191T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The proline residue at codon 1191 of CREBBP is conserved in all mammalian species. The nucleotide c.3571 in CREBBP is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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