Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031846 | SCV001195153 | pathogenic | Hereditary hemorrhagic telangiectasia | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the ENG gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500). A similar copy number variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 9245986, 21158752). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |