Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003004997 | SCV003300299 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2022-06-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002996207 | SCV003555787 | uncertain significance | Inborn genetic diseases | 2021-03-18 | criteria provided, single submitter | clinical testing | The c.7136A>G (p.N2379S) alteration is located in exon 31 (coding exon 31) of the EP300 gene. This alteration results from a A to G substitution at nucleotide position 7136, causing the asparagine (N) at amino acid position 2379 to be replaced by a serine (S). The p.N2379S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |