Submissions for variant NM_006755.2(TALDO1):c.793del (p.Gln265fs)

dbSNP: rs727502867

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000150042	SCV001521107	pathogenic	Deficiency of transaldolase	2019-04-19	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 23315216]
Revvity Omics, Revvity	RCV000150042	SCV002018925	pathogenic	Deficiency of transaldolase	2021-05-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001850032	SCV002236632	pathogenic	not provided	2021-08-18	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162622). This premature translational stop signal has been observed in individual(s) with transaldolase deficiency (PMID: 23315216; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln265Argfs*56) in the TALDO1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 73 amino acid(s) of the TALDO1 protein.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000150042	SCV004807216	pathogenic	Deficiency of transaldolase	2024-03-26	criteria provided, single submitter	clinical testing
OMIM	RCV000150042	SCV000196912	pathogenic	Deficiency of transaldolase	2013-11-01	no assertion criteria provided	literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000150042	SCV001133214	pathogenic	Deficiency of transaldolase	2019-09-26	no assertion criteria provided	clinical testing