ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)

dbSNP: rs28931613
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513094 SCV003444611 pathogenic not provided 2022-04-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 44 of the TYMP protein (p.Arg44Gln). For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 16661). This variant is also known as G435A. This missense change has been observed in individual(s) with mitochondrial neurogastrointestinal encephalomyopathy (PMID: 12177387). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).
OMIM RCV000018141 SCV000038420 pathogenic Mitochondrial DNA depletion syndrome 1 2002-08-13 no assertion criteria provided literature only
GeneReviews RCV000018141 SCV000264498 pathogenic Mitochondrial DNA depletion syndrome 1 2016-01-14 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.