ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720694 SCV005329591 likely pathogenic Mitochondrial DNA depletion syndrome 1 2023-05-20 criteria provided, single submitter clinical testing The observed stop gained variant c.454G>T (p.Gly152Ter) in TYMP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly152Ter variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. The nucleotide change c.454G>T in TYMP is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. 1. Computational evidence (MutationTaster - Disease causing) predicts damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Likely Pathogenic.

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