Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002820784 | SCV003205901 | likely pathogenic | Hereditary hemorrhagic telangiectasia | 2022-06-12 | criteria provided, single submitter | clinical testing | 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. This variant disrupts the p.Val49 amino acid residue in ENG. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15024723, 17786384, 21158752, 22022569, 22991266). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ENG protein function. This variant has not been reported in the literature in individuals affected with ENG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 49 of the ENG protein (p.Val49Asp). |
| Fulgent Genetics, |
RCV005045002 | SCV005679918 | likely pathogenic | Telangiectasia, hereditary hemorrhagic, type 1 | 2024-06-20 | criteria provided, single submitter | clinical testing |