Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
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, |
RCV001027439 | SCV001189998 | uncertain significance | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2019-11-05 | no assertion criteria provided | clinical testing |