ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) (rs367683258)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200369 SCV000252410 pathogenic not provided 2014-04-02 criteria provided, single submitter clinical testing p.Arg240Stop (R240X) CGA>TGA: c.718 C>T in exon 7 of the TRMU gene (NM_018006.4). The R240X nonsense mutation in the TRMU gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously, other protein truncating mutations in the TRMU gene have been reported in association with infantile liver failure or combined respiratory chain deficiency. The variant is found in LAPDH-MITOP panel(s).

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