Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001869326 | SCV002113494 | uncertain significance | not provided | 2022-07-21 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 202 of the TALDO1 protein (p.Asp202Asn). This variant is present in population databases (rs140985565, gnomAD 0.05%). This missense change has been observed in individual(s) with acetaminophen-induced liver failure (PMID: 31769880). ClinVar contains an entry for this variant (Variation ID: 800779). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TALDO1 function (PMID: 31769880). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Biochemical Molecular Genetic Laboratory, |
RCV000984949 | SCV001132863 | uncertain significance | Deficiency of transaldolase | 2019-01-29 | no assertion criteria provided | clinical testing |