Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002515852 | SCV003287423 | benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003415911 | SCV004113204 | uncertain significance | EP300-related condition | 2023-10-06 | criteria provided, single submitter | clinical testing | The EP300 c.1150T>G variant is predicted to result in the amino acid substitution p.Ser384Ala. To our knowledge, this variant has not been reported in the literature in association with EP300-related disease. Of note, this variant was reported in healthy individuals per a genome sequencing study (Supplementary Table S1, Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.0094% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41523734-T-G). This variant has been interpreted as benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134063/). Although we suspect that 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. |
ITMI | RCV000120732 | SCV000084895 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |