Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000469021 | SCV000563893 | uncertain significance | Angelman syndrome | 2016-04-05 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the UBE3A gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication is unknown, it may be in tandem or it may be located elsewhere in the genome. A gross duplication of the UBE3A gene has been reported in three family members affected with developmental delay, anxiety and depression (PMID: 25884337). Expression analysis in this family indicated that this duplication results in increased expression of the UBE3A mRNA. In summary, this variant is a gross duplication that is predicted to result in increased expression of the UBE3A gene. Although reported in affected individuals, the available evidence is currently insufficient to establish a definitive correlation between a duplication of UBE3A alone and neurodevelopmental abnormalities. Therefore, this duplication has been classified as a Variant of Uncertain Significance. |