ClinVar Miner

Submissions for variant NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) (rs751425603)

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
GeneDx RCV000431498 SCV000521362 pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing The R192C variant in the TALDO1 gene has been reported previously in the homozygous state in several individuals with transaldolase deficiency (Wamelink et al., 2008b; Al-Shamsi et al., 2015; Rodan et al., 2016). The R192C variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R192C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant at the same residue, R192H, was identified in the homozygous state in a patient with transaldolase deficiency, supporting the functional importance of this region of the protein (Verhoeven et al., 2005). We interpret R192C as a pathogenic variant.
Baylor Genetics RCV000679866 SCV000807234 uncertain significance Deficiency of transaldolase 2017-09-01 criteria provided, single submitter clinical testing This missense variant has been previously reported as disease-causing and was found twice in our laboratory homozygous: in a 1-year-old male with hepatosplenomegaly; in a 6-year-old male with speech delay, dysmorphisms, hyperextensibiity, hepatosplenomegaly with cryptogenic cirrhosis and thrombocytopenia possibly secondary to hypersplenia. A sibling with hepatosplenomegaly was also homozygous.
OMIM RCV000679866 SCV001338766 pathogenic Deficiency of transaldolase 2020-06-15 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.