ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.68-1G>A (rs878853659)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000232191 SCV000893795 likely pathogenic Osler hemorrhagic telangiectasia syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000578937 SCV000680677 pathogenic not provided 2018-01-10 criteria provided, single submitter clinical testing The c.68-1 G>A pathogenic variant in the ENG gene has been previously reported in at least two individuals in association with HHT (Lesca et al., 2004; Bossler et al., 2006). This variant destroys the canonical splice acceptor site in intron 1 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the ENG gene have been reported in HGMD in association with HHT (Stenson et al., 2014). Furthermore, the c.68-1 G>A variant is not observed in large population cohorts (Lek et al., 2016).
Invitae RCV000232191 SCV000283540 pathogenic Osler hemorrhagic telangiectasia syndrome 2016-03-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the ENG gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in ENG are known to be pathogenic (PMID: 21158752, 12673790). This particular variant has been identified in a patient with confirmed hereditary hemorrhagic telangiectasia (PMID: 15024723). For these reasons, this variant has been classified as Pathogenic.

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