ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.954dup (p.Ala319fs)

dbSNP: rs863224242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197202 SCV000252417 pathogenic not provided 2014-04-29 criteria provided, single submitter clinical testing c.954dupC: p.Ala319ArgfsX87 in exon 9 of the TRMU gene (NM_018006.4). The c.954dupC mutation in the TRMU gene causes a frameshift starting with codon Alanine 319, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 87 of the new reading frame and replaces the last 103 amino acids with 86 incorrect amino acids, denoted p.Ala319ArgfsX87. This mutation is predicted to cause loss of normal protein function. The variant is found in TRMU panel(s).
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578236 SCV000680417 pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000197202 SCV003444455 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala319Argfs*87) in the TRMU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the TRMU protein. This variant is present in population databases (rs761538607, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with TRMU-related conditions (PMID: 26633542). ClinVar contains an entry for this variant (Variation ID: 215294). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV003474951 SCV004204375 pathogenic Aminoglycoside-induced deafness 2023-06-26 criteria provided, single submitter clinical testing

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