Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059724 | SCV001224366 | pathogenic | Hereditary hemorrhagic telangiectasia | 2019-12-18 | criteria provided, single submitter | clinical testing | This variant has been reported to affect ENG protein function (PMID: 22022569). This variant has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 12673790). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 165 of the ENG protein (p.Pro165Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. For these reasons, this variant has been classified as Pathogenic. |