ClinVar Miner

Submissions for variant NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)

gnomAD frequency: 0.00001  dbSNP: rs1565538350
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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 RCV000770936 SCV004238087 uncertain significance Triosephosphate isomerase deficiency 2023-05-10 criteria provided, single submitter clinical testing
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.

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