ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1243C>T (p.Gln415Ter) (rs1343053876)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000406 SCV001157200 pathogenic Hereditary hemorrhagic telangiectasia type 1 2019-04-25 criteria provided, single submitter clinical testing The ENG c.1243C>T; p.Gln415Ter variant (rs1343053876) is reported in the literature in an individual with HHT (Wehner 2006). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Wehner LE et al. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Clin Genet. 2006 Mar;69(3):239-45.

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