ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)

gnomAD frequency: 0.00001  dbSNP: rs2069504242
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950980 SCV002240781 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1456105). This variant has not been reported in the literature in individuals affected with TYMP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg79*) 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).
Baylor Genetics RCV003147714 SCV003834934 likely pathogenic Mitochondrial DNA depletion syndrome 1 2021-04-06 criteria provided, single submitter clinical testing
Palindrome, Gene Kavoshgaran Aria RCV003147714 SCV005046428 pathogenic Mitochondrial DNA depletion syndrome 1 2023-06-07 criteria provided, single submitter clinical testing

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