ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.417+1G>A

dbSNP: rs1603442040
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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 RCV001238376 SCV001411182 pathogenic not provided 2023-10-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the TYMP gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individual(s) with TYMP-related conditions (PMID: 34926160). ClinVar contains an entry for this variant (Variation ID: 964197). 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 RCV003462808 SCV004207523 pathogenic Mitochondrial DNA depletion syndrome 1 2024-01-21 criteria provided, single submitter clinical testing

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