ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2113+1G>C

dbSNP: rs2141232415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314281 SCV004013482 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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