ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.1102-3C>G (rs753039116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489397 SCV000577625 likely pathogenic not provided 2015-12-28 criteria provided, single submitter clinical testing The c.1102-3 C>G splice site variant in the TRMU gene has been previously reported in an individual with reversible infantile respiratory chain deficiency and hepatic failure who was also heterozygous for another variant in the TRMU gene (Uusimaa et al., 2011). This variant reduces the quality of the splice acceptor site in intron 10 and results in the creation of a new splice acceptor site 2 base pairs upstream of the canonical splice acceptor site, and is expected to cause abnormal gene splicing (Uusimaa et al., 2011).
Natera, Inc. RCV001274268 SCV001458234 likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-09-16 no assertion criteria provided clinical testing

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