Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230568 | SCV001403051 | pathogenic | Hereditary hemorrhagic telangiectasia | 2019-10-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the ENG protein. Other variant(s) that disrupt this region (p.Leu572*) have been determined to be pathogenic (PMID: 11440987, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in an individual affected with hereditary hemorrhagic telangiectasia (PMID: 20414677). This variant is also described as c.1695delT (p.His565GlnfsX572) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the ENG gene (p.His565Glnfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acids of the ENG protein. |