ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.588G>A (p.Trp196Ter) (rs1588582860)

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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 RCV001000381 SCV001157144 pathogenic Hereditary hemorrhagic telangiectasia type 1 2019-05-01 criteria provided, single submitter clinical testing The ENG c.588G>A; p.Trp196Ter variant is reported in the literature in three individuals of a family with HHT (Cymerman 2003), and our laboratory has previously identified this variant in an individual with HHT. 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 Cymerman U et al. Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. Hum Mutat. 2003 May;21(5):482-92.

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