ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1861G>A (p.Glu621Lys)

dbSNP: rs778829658
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001779375 SCV002014713 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2021-10-25 criteria provided, single submitter clinical testing This variant is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.83, PP3). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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