Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000542305 | SCV000629538 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2017-06-15 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exons 3-8 of the ENG gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and in-frame, therefore preserving the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with hereditary hemorrhagic telangiectasia (PMID: 10702408). Additional in-frame duplications affecting exon 3, exons 4-8, and exons 5-7 have also been reported in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 21158752, 16705692, 23722869). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |