ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.2T>G (p.Met1Arg) (rs118203992)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198888 SCV000252415 pathogenic not provided 2013-10-23 criteria provided, single submitter clinical testing p.Met1? (ATG>?): c.2 T>G in exon 1 of the TRMU gene (NM_018006.4). The c.2 T>G mutation identified in the TRMU genet has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.2 T>G mutation alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. Therefore, c.2 T>G is expected to be a pathogenic mutation. The variant is found in LAPDH-MITOP panel(s)."

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