ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.-8_8del (p.Met1fs) (rs1588604603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814719 SCV000955141 likely pathogenic Hereditary hemorrhagic telangiectasia 2018-10-17 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ENG mRNA. The next in-frame methionine is located at codon 183. 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 disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. Several different variants (c.2T>G, c.1A>G, and c.1A>C) disrupting the initiator codon have been reported in individuals affected with hereditary hemorrhagic telangiectasia (PMID: 12920067, 21158752, 15517393, 16429404, Invitae), indicating that this residue may be critical for protein function. 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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