ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.166C>T (p.Gln56Ter) (rs1588596879)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817651 SCV000958228 pathogenic Hereditary hemorrhagic telangiectasia 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln56*) 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 been observed in several individuals affected with hereditary hemorrhagic telangiectasia (PMID: 16752392, 16525724). 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262058 SCV001439438 pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research PVS1+PM2+PP4

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