ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.581_592del (p.Leu194_Arg197del) (rs1554810408)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000664305 SCV000788236 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-03-28 criteria provided, single submitter research The ENG gene variant designated as NM_000118.3:c.589_592del12 is classified as pathogenic. Cosegregation analysis of one observed family was performed using (Rañola et al, 2018, PMID:28965303) and shows a likelihood ratio of 10.54 to 1 that this allele explains hereditary hemorrhagic telangiectasia in the family, providing evidence for pathogenicity of the variant (Thompson et al., 2003, PMID:1290079). We estimated a pretest probability of 90% supporting pathogenicity from PROVEAN computer algorithms. The ENG database from ARUP laboratories reported the variant in two affected relatives (one first-degree and one second-degree) of a proband (see Gedge et al., 2007, PMID:17384219 and Bayesian analysis integrating all of this data (Tavtigian et al, 2018, PMID:29300386) gives a 98% probability of pathogenicity, which is consistent with a classification of likely pathogenic. This variant is predicted to alter ENG function and cause hereditary hemorrhagic telangiectasia. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.

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