Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000198086 | SCV000251405 | likely pathogenic | not provided | 2014-07-15 | criteria provided, single submitter | clinical testing | p.Asp119Asn (GAT>AAT): c.355 G>A in exon 3 of the FBP1 gene (NM_000507.3). It has not been reported as a benign polymorphism to our knowledge. It has been presented as a mutation in association with fructose 1,6-bisphosphatase deficiency in a poster session (Frisso et al., 2013). The D119N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s). |
Department of Medical Genetics and Molecular Diagnostic Laboratory, |
RCV000456119 | SCV000537872 | pathogenic | Fructose-biphosphatase deficiency | 2017-03-27 | criteria provided, single submitter | in vitro | |
Center for Molecular Medicine, |
RCV000456119 | SCV004035245 | likely pathogenic | Fructose-biphosphatase deficiency | 2022-12-21 | criteria provided, single submitter | clinical testing |