ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468811 SCV002764940 pathogenic Mitochondrial DNA depletion syndrome 1 2021-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573597 SCV003452779 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp108*) in the TYMP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYMP are known to be pathogenic (PMID: 9924029, 15781193). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TYMP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1804073). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002468811 SCV004207514 likely pathogenic Mitochondrial DNA depletion syndrome 1 2023-07-02 criteria provided, single submitter clinical testing

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