ClinVar Miner

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

dbSNP: rs727502867
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Total submissions: 5
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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 Omics RCV000150042 SCV002018925 pathogenic Deficiency of transaldolase 2021-05-06 criteria provided, single submitter clinical testing
Invitae RCV001850032 SCV002236632 pathogenic not provided 2021-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with transaldolase deficiency (PMID: 23315216; Invitae). ClinVar contains an entry for this variant (Variation ID: 162622).
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

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