ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro)

dbSNP: rs1060499533
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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 RCV002517411 SCV003444458 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 371 of the TYMP protein (p.Leu371Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mitochondrial DNA depletion syndrome (PMID: 12529715). ClinVar contains an entry for this variant (Variation ID: 223052).
GeneReviews RCV000208705 SCV000264534 pathogenic Mitochondrial DNA depletion syndrome 1 2016-01-14 no assertion criteria provided literature only

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