ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.954dup (p.Ala319fs) (rs863224242)

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Total submissions: 2
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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, Klinikum rechts der Isar RCV000578236 SCV000680417 pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2017-11-08 criteria provided, single submitter clinical testing

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