ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1687-2A>G

dbSNP: rs2131873933
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388266 SCV001589192 pathogenic Hereditary hemorrhagic telangiectasia 2020-06-16 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 16542389). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 12 of the ENG gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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