ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.20del (p.Pro7fs)

dbSNP: rs2148683541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388327 SCV001589261 pathogenic not provided 2020-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TYMP are known to be pathogenic (PMID: 9924029, 15781193). This variant has not been reported in the literature in individuals with TYMP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro7Argfs*33) in the TYMP gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV003463022 SCV004207507 likely pathogenic Mitochondrial DNA depletion syndrome 1 2023-09-04 criteria provided, single submitter clinical testing

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