ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.882del (p.Thr295fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282908 SCV002570903 likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2022-07-28 criteria provided, single submitter clinical testing Variant summary: TRMU c.882delG (p.Thr295GlnfsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 248070 control chromosomes. To our knowledge, no occurrence of c.882delG in individuals affected with Liver Failure Acute Infantile, Transient and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV003475326 SCV004204397 likely pathogenic Aminoglycoside-induced deafness 2024-02-10 criteria provided, single submitter clinical testing

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