ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs751425603
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431498 SCV000521362 pathogenic not provided 2024-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18331807, 25388407, 27391121, 23315216, 27130472, 35186000, 30740741, 32828637, 37071763, 34677006, 31769880)
Baylor Genetics RCV000679866 SCV000807234 pathogenic Deficiency of transaldolase criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000431498 SCV003439671 pathogenic not provided 2022-08-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 192 of the TALDO1 protein (p.Arg192Cys). This variant is present in population databases (rs751425603, gnomAD 0.01%). This missense change has been observed in individual(s) with transaldolase deficiency (PMID: 18331807, 25388407). ClinVar contains an entry for this variant (Variation ID: 381759). 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 disruptive. This variant disrupts the p.Arg192 amino acid residue in TALDO1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15877206, 24497183, 29292491). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000679866 SCV005420348 pathogenic Deficiency of transaldolase 2024-10-04 criteria provided, single submitter research PM3(very strong),PM2,PM5,PP3
OMIM RCV000679866 SCV001338766 pathogenic Deficiency of transaldolase 2020-06-15 no assertion criteria provided literature only

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