ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs)

dbSNP: rs1830425406
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246195 SCV001419535 pathogenic Hereditary hemorrhagic telangiectasia 2019-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val426Ilefs*75) 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 not been reported in the literature in individuals with ENG-related conditions. 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.

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