ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1698del (p.Thr567fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203720 SCV001374896 pathogenic Hereditary hemorrhagic telangiectasia 2020-10-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ENG gene (p.Thr567Leufs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 59 amino acids of the ENG protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with hereditary hemorrhagic telangiectasia (HHT) (PMID: 16752392, 22991266, Invitae). This variant is also described as c.1698delG (p.R566fsX572 or p.Arg566fs) in the literature This variant disrupts the C-terminus of the ENG protein. Other variant(s) that disrupt this region (p.Leu572*) have been determined to be pathogenic (PMID: 11440987, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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