ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.187G>T (p.Glu63Ter) (rs1588596830)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000992 SCV001158097 pathogenic Hereditary hemorrhagic telangiectasia type 1 2019-01-12 criteria provided, single submitter clinical testing The ENG c.187G>T; p.Glu63Ter variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic.
Invitae RCV001044486 SCV001208287 pathogenic Hereditary hemorrhagic telangiectasia 2020-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu63*) in the ENG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ENG-related conditions. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). For these reasons, this variant has been classified as Pathogenic.

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