ClinVar Miner

Submissions for variant NM_000507.4(FBP1):c.865A>T (p.Met289Leu)

gnomAD frequency: 0.00369  dbSNP: rs145771944
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195497 SCV000251401 likely benign not specified 2015-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513932 SCV000610760 likely benign not provided 2017-02-22 criteria provided, single submitter clinical testing
Invitae RCV001087746 SCV001121695 benign Fructose-biphosphatase deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947632 SCV004764810 likely benign FBP1-related condition 2019-12-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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