Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031979 | SCV001195286 | likely pathogenic | Hereditary hemorrhagic telangiectasia | 2020-02-09 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 6-8 of the ENG gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ENG-related conditions. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). 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. |