ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)

dbSNP: rs769668643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001866829 SCV002117779 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr29*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRMU-related conditions. ClinVar contains an entry for this variant (Variation ID: 1355265). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002506887 SCV002809896 likely pathogenic Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2022-01-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475118 SCV004204350 likely pathogenic Aminoglycoside-induced deafness 2023-10-11 criteria provided, single submitter clinical testing

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