ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)

dbSNP: rs1239213391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837202 SCV002097691 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2020-06-18 criteria provided, single submitter clinical testing The inherited p.Val293Glumissense variant identified in CREBBP has not been reported in affected individuals in the literature. The variantis absent from the gnomAD database indicating it is an extremely rare allele in the general population. The variant affects an evolutionarily conserved residueand is predicted deleterious by multiple in silico prediction tools. Based on the available evidence, the inherited p.Val293Glu missense variant identified inthis individual is assessed as a variant of uncertain significance.

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