ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.391C>A (p.Pro131Thr)

dbSNP: rs863224255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathophysiology and Transplantation, University of Milan RCV001260913 SCV001438018 likely pathogenic Mitochondrial DNA depletion syndrome 1 2020-07-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517272 SCV003444459 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 131 of the TYMP protein (p.Pro131Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with TYMP-related conditions (PMID: 32849836). ClinVar contains an entry for this variant (Variation ID: 215342). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TYMP protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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