ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala)

dbSNP: rs1358846937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003396617 SCV004105246 uncertain significance EP300-related condition 2023-03-10 criteria provided, single submitter clinical testing The EP300 c.6607C>G variant is predicted to result in the amino acid substitution p.Pro2203Ala. This variant was reported as a variant of uncertain significance in an individual with Rubinstein-Taybi syndrome (Cross et al. 2020. PubMed ID: 32827181). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV001027439 SCV001189998 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2019-11-05 no assertion criteria provided clinical testing

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