ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.803del (p.Ala268fs)

gnomAD frequency: 0.00001  dbSNP: rs745338284
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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 RCV001384177 SCV001583564 pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRMU-related conditions. This variant is present in population databases (rs745338284, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ala268Glufs*3) 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). ClinVar contains an entry for this variant (Variation ID: 1071658). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499800 SCV002811612 pathogenic Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2021-12-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473951 SCV004204354 likely pathogenic Aminoglycoside-induced deafness 2023-11-30 criteria provided, single submitter clinical testing

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