Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002520051 | SCV000660425 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003409548 | SCV004106948 | uncertain significance | EP300-related condition | 2023-11-10 | criteria provided, single submitter | clinical testing | The EP300 c.1540A>G variant is predicted to result in the amino acid substitution p.Met514Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.035% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41531828-A-G), which is likely too common to be a fully penetrant cause of disease. Although we suspect this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |