ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1470dup (p.Asp491fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069205 SCV001234358 pathogenic Hereditary hemorrhagic telangiectasia 2020-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp491Argfs*10) 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 a family and individuals affected with hereditary hemorrhagic telangiectasia (PMID: 10625079, 15712271). This variant is also known as +A FS at 1471 in the literature. 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.
GeneDx RCV001585973 SCV001818272 pathogenic not provided 2021-01-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 10625079, 16752392, 17384219, 15712271, 11440987)

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