ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)

gnomAD frequency: 0.00002  dbSNP: rs758609113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Shanghai Children's Medical Center RCV000456119 SCV000537872 pathogenic Fructose-biphosphatase deficiency 2017-03-27 criteria provided, single submitter in vitro
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV000456119 SCV004035245 likely pathogenic Fructose-biphosphatase deficiency 2022-12-21 criteria provided, single submitter clinical testing

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