ClinVar

Description

This sequence change creates a premature translational stop signal (p.Asp323Thrfs*7) in the FBP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the FBP1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with fructose-1,6-bisphosphatase deficiency (PMID: 10234608). ClinVar contains an entry for this variant (Variation ID: 548499). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects FBP1 function (PMID: 10234608). This variant disrupts a region of the FBP1 protein in which other variant(s) (p.Leu329Pro) have been determined to be pathogenic (PMID: 30858132). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.