ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) (rs1588582060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001196 SCV001158356 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2019-04-25 criteria provided, single submitter clinical testing The ENG c.704_709delCGGTGA; p.Thr235_Val236del variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes a threonine and valine residue leaving the rest of the protein in-frame. A different in-frame deletion of the valine 236 codon (c.706_708delGTG; p.Val236del) is reported in the literature in an individual with HHT (Brakensiek 2008). However, due to limited information, the clinical significance of the p.Thr235_Val236del variant is uncertain at this time. REFERENCES Brakensiek K et al. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clin Genet. 2008 Aug;74(2):171-7.
Invitae RCV001223354 SCV001395498 uncertain significance Hereditary hemorrhagic telangiectasia 2019-06-05 criteria provided, single submitter clinical testing This variant, c.704_709del, results in the deletion of 2 amino acid(s) of the ENG protein (p.Thr235_Val236del), but otherwise preserves the integrity of the reading frame. 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 conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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