ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.220-1G>A

dbSNP: rs1554810936
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507915 SCV000603457 pathogenic not specified 2016-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217385 SCV001389221 pathogenic Hereditary hemorrhagic telangiectasia 2022-11-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 439650). This sequence change affects an acceptor splice site in intron 2 of the ENG gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with clinical features of hereditary hemorrhagic telangiectasia (Invitae). 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. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004730967 SCV005337308 likely pathogenic ENG-related disorder 2024-08-08 no assertion criteria provided clinical testing The ENG c.220-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in ENG are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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