Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001209139 | SCV001380562 | pathogenic | Hereditary hemorrhagic telangiectasia | 2019-05-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). This variant has not been reported in the literature in individuals with ENG-related conditions. This sequence change creates a premature translational stop signal (p.Gly413Alafs*8) in the ENG gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002365938 | SCV002665572 | pathogenic | Cardiovascular phenotype | 2021-08-26 | criteria provided, single submitter | clinical testing | The c.1238delG pathogenic mutation, located in coding exon 9 of the ENG gene, results from a deletion of one nucleotide at nucleotide position 1238, causing a translational frameshift with a predicted alternate stop codon (p.G413Afs*8). This alteration has been reported in an individual with a clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |