Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708067 | SCV000837177 | pathogenic | Hereditary hemorrhagic telangiectasia | 2022-09-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 9-10 of the ENG gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with recurrent epistaxis, telangiectasia and multiple pulmonary arteriovenous malformations, and hereditary hemorrhagic telangiectasia (PMID: 20414677; Invitae). This variant is also known as exons 9A-9B deletions. This variant disrupts the p.Cys412 amino acid residue in ENG. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15024723, 24196379, 25312062; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |