ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.729del (p.Asn244fs)

dbSNP: rs755728248
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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 RCV002034576 SCV002231490 pathogenic not provided 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn244Thrfs*19) 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 (rs755728248, gnomAD 0.02%). 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: 1323728). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464137 SCV004207516 likely pathogenic Mitochondrial DNA depletion syndrome 1 2023-06-21 criteria provided, single submitter clinical testing

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