ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.470C>T (p.Thr157Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Houlden Lab, UCL Institute of Neurology RCV003315460 SCV003035504 uncertain significance Combined oxidative phosphorylation defect type 21 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004731296 SCV005340762 uncertain significance TARS2-related disorder 2024-09-04 no assertion criteria provided clinical testing The TARS2 c.470C>T variant is predicted to result in the amino acid substitution p.Thr157Ile. This variant has been reported in the homozygous state in an individual with TARS2-related disorder (Accogli et al. 2023. PubMed ID: 37454282). This variant has not been reported in a large population database, indicating it is rare. An alternate missense substitution affecting the same amino acid (p.Thr157Arg) has been reported in the compound heterozygous state in two individuals with TARS2-related disorder (Accogli et al. 2023. PubMed ID: 37454282). At this time, the clinical significance of the c.470C>T (p.Thr157Ile) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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