Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001391026 | SCV001592942 | pathogenic | Hereditary hemorrhagic telangiectasia | 2022-09-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ENG-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076967). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr136Hisfs*13) in the ENG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500). |