ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)

gnomAD frequency: 0.00028  dbSNP: rs200679026
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197614 SCV000251408 uncertain significance not provided 2021-09-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30167848, 31589614)
Invitae RCV000991167 SCV001064332 benign Fructose-biphosphatase deficiency 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000991167 SCV001327774 uncertain significance Fructose-biphosphatase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Reproductive Health Research and Development, BGI Genomics RCV000991167 SCV001142397 uncertain significance Fructose-biphosphatase deficiency 2020-01-06 no assertion criteria provided curation NM_000507.3:c.730C>T in the FBP1 gene has an allele frequency of 0.01 in Ashkenazi Jewish subpopulation in the gnomAD database including one homozygous occurrence. Pathogenic computational verdict because pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, PrimateAI, REVEL and SIFT. Taken together, we interprete this variant as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1, PP3.

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