ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1687delG (rs1564452075)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703950 SCV000832880 pathogenic Hereditary hemorrhagic telangiectasia 2020-08-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ENG gene (p.Glu563Lysfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acids of the ENG protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with hereditary hemorrhagic telangiectasia (HHT) (PMID: 24196379), and has been observed independently to be de novo in an affected individual (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. This variant disrupts the C-terminus of the ENG protein. Other variant(s) that disrupt this region (p.Ile602Serfs*38, p.Gly603Arg) have been observed in affected individuals (PMID: 23919827, 20414677). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic.

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