ClinVar Miner

Submissions for variant NM_001159287.1(TPI1):c.680G>A (p.Arg227Gln) (rs1565538350)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Palladino Lab,Pittsburgh Institute for Neurodegenerative Disease RCV000770936 SCV000882820 pathogenic Triosephosphate isomerase deficiency no assertion criteria provided research The R190Q variant in TPI1 had not been previously reported, yet we find this in a compound heterozygous patient (TPI1[E104D]/[R190Q]) suffering from severe hemolytic anemia, cerebral atrophy and periventricular leukomalacia, neuromuscular impairment with respiratory deficiency, bilateral diaframatic paralysis. TPI[E104D] is known to cause TPI deficiency in homozygous or compound heterozygous patients (PMID: 9338582), and here we have shown that R189 mutations alters the structure of the enzyme's catalytic site, and reduces protein levels in animal models and patient fibroblasts.

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.