ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs1174791046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061663 SCV001226413 pathogenic not provided 2023-11-17 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. Loss-of-function variants in TRMU are known to be pathogenic (PMID: 19732863, 23625533). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with clinical features of acute infantile liver failure (PMID: 30740308). ClinVar contains an entry for this variant (Variation ID: 856245). 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
Baylor Genetics RCV003473679 SCV004204364 pathogenic Aminoglycoside-induced deafness 2024-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001250082 SCV002076151 pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2021-01-28 no assertion criteria provided clinical testing

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