ClinVar Miner

Submissions for variant NM_006755.1(TALDO1):c.516dupC (rs797045110)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190629 SCV000245668 pathogenic Deficiency of transaldolase 2014-12-30 criteria provided, single submitter clinical testing The p.Ala173ArgfsX23 variant in TALDO1 has not been previously reported in individuals with disease and data from large population studies is insufficient to assess the frequency of this variant. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 173 and leads to a premature termination codon 23 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Biallelic loss of function variants in TALDO1 have been shown to cause transaldolase deficiency. In summary, this variant meets our criteria to be classified as pathogenic for transaldolase deficiency in an autosomal recessive manner.

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