ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1464A>G (p.Arg488=)

gnomAD frequency: 0.00002  dbSNP: rs748404878
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000500701 SCV000598466 uncertain significance Mitochondrial DNA depletion syndrome 13 2017-08-10 criteria provided, single submitter reference population The NM_012160.4:c.1464A>G (NP_036292.2:p.Arg488=) [GRCH38: NC_000006.12:g.98875653T>C] variant in FBXL4 gene is interpretated to be a Uncertain Significance - Conflicting Evidence based on ACMG guidelines (PMID: 25741868). This variant meets one or more of the following evidence codes reported in the ACMG-guideline. PM2:This variant is absent in key population databases. BP4:Computational evidence/predictors indicate no impact on the FBXL4 structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. Based on this evidence code ClinGen Pathogenicity Calculator (PMID:28081714) suggested that the variant is Uncertain Significance - Conflicting Evidence.
CeGaT Center for Human Genetics Tuebingen RCV003311830 SCV004011692 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing FBXL4: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003311830 SCV005189163 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925499 SCV004744013 likely benign FBXL4-related disorder 2019-09-26 no assertion criteria provided 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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