Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462675 | SCV000563859 | pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2016-10-05 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 2 of the ENG gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic. A similar deletion of exon 2 has been reported in the literature in patients with personal and family history of epistaxis and telangiectasia and/or arteriovenous malformations (PMID: 20414677). For these reasons, this variant has been classified as Pathogenic. |