ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.711dup (p.Gln238fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131773 SCV003810166 likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2022-06-29 criteria provided, single submitter clinical testing
Invitae RCV003561182 SCV004300039 pathogenic not provided 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln238Alafs*14) 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 premature translational stop signal has been observed in individual(s) with combined respiratory chain deficiency (PMID: 21169334). ClinVar contains an entry for this variant (Variation ID: 2434263). For these reasons, this variant has been classified as Pathogenic.

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