ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061663 SCV001226413 pathogenic not provided 2019-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp39*) in the TRMU gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with acute infantile liver failure (PMID: 30740308). Loss-of-function variants in TRMU are known to be pathogenic (PMID: 19732863, 23625533). For these reasons, this variant has been classified as Pathogenic.
Elsea Laboratory,Baylor College of Medicine RCV001250082 SCV001424254 pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-04-01 criteria provided, single submitter clinical testing

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