ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.333dup (p.His112fs)

dbSNP: rs756600903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733251 SCV000861296 pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000733251 SCV001409968 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His112Serfs*6) 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 (rs756600903, gnomAD 0.003%). 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: 597202). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499369 SCV002809710 likely pathogenic Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2022-04-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472267 SCV004204353 likely pathogenic Aminoglycoside-induced deafness 2023-10-03 criteria provided, single submitter clinical testing

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