Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225902 | SCV001398196 | pathogenic | Hereditary hemorrhagic telangiectasia | 2019-10-29 | criteria provided, single submitter | clinical testing | 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 variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro225Argfs*10) in the ENG gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002375222 | SCV002667860 | pathogenic | Cardiovascular phenotype | 2019-09-05 | criteria provided, single submitter | clinical testing | The c.674delC pathogenic mutation, located in coding exon 5 of the ENG gene, results from a deletion of one nucleotide at nucleotide position 674, causing a translational frameshift with a predicted alternate stop codon (p.P225Rfs*10). 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. |