ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.809T>C (p.Leu270Pro)

dbSNP: rs1178421926
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783996 SCV002021573 likely pathogenic Mitochondrial DNA depletion syndrome 1 2021-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034609 SCV002295928 likely pathogenic not provided 2023-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 270 of the TYMP protein (p.Leu270Pro). 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: 23685548). ClinVar contains an entry for this variant (Variation ID: 1325321). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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