ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.296T>C (p.Ile99Thr)

gnomAD frequency: 0.00108  dbSNP: rs144054758
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000367714 SCV000340441 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000367714 SCV001065330 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920113 SCV004728660 likely benign TRMU-related condition 2022-02-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001277297 SCV001464238 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-06-05 no assertion criteria provided clinical testing

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