ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)

dbSNP: rs1830384447
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059287 SCV001223908 pathogenic Hereditary hemorrhagic telangiectasia 2019-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu497*) in the ENG gene. It is expected to result in an absent or disrupted protein product.

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