ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup)

dbSNP: rs1554682769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482146 SCV000567978 likely pathogenic not provided 2019-05-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame duplication of 2 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 19259699, 32020156)
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261613 SCV001438897 pathogenic Fructose-biphosphatase deficiency criteria provided, single submitter clinical testing
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV001261613 SCV003804195 pathogenic Fructose-biphosphatase deficiency criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001261613 SCV004806850 uncertain significance Fructose-biphosphatase deficiency 2024-03-26 criteria provided, single submitter clinical testing

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