ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)

dbSNP: rs1054084896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000208680 SCV004207521 pathogenic Mitochondrial DNA depletion syndrome 1 2023-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556264 SCV004300057 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu38*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individuals with mitochondrial neurogastrointestinal encephalomyopathy (PMID: 20585803, 28764801). ClinVar contains an entry for this variant (Variation ID: 223014). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000208680 SCV000264496 pathogenic Mitochondrial DNA depletion syndrome 1 2016-01-14 no assertion criteria provided literature only

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