ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.68-3C>G (rs773334730)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688658 SCV000816280 likely pathogenic Hereditary hemorrhagic telangiectasia type 1 2018-02-06 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the ENG gene. It does not directly change the encoded amino acid sequence of the ENG protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individual affected with ENG-related disease (PMID: 25970827, Invitae). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this intronic change leads to the skipping of exon 2 (PMID: 25970827). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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